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Color blindness
Color blindness
from Wikipedia

Color blindness
Other namesColor vision deficiency, color anomaly, color deficiency, impaired color vision[1]
Example of an Ishihara color test plate. Viewers with normal color vision should clearly see the number "74".
SpecialtyOphthalmology
SymptomsDecreased ability to see colors[2]
DurationLong term[2]
CausesGenetic (inherited usually X-linked)[2]
Diagnostic methodIshihara color test[2]
TreatmentAdjustments to teaching methods, mobile apps[1][2]
FrequencyRed–green: 8% males, 0.5% females (Northern European descent)[2]

Color blindness, color vision deficiency (CVD), color anomaly, color deficiency, or impaired color vision is the decreased ability to see color, differences in color, or distinguish shades of color.[2] The severity of color blindness ranges from mostly unnoticeable to full absence of color perception.

Color blindness is usually a sex-linked inherited problem or variation in the functionality of one or more of the three classes of cone cells in the retina, which mediate color vision.[2] The most common form is caused by a genetic condition called congenital red–green color blindness (including protan and deutan types), which affects up to 1 in 12 males (8%) and 1 in 200 females (0.5%).[3] The condition is more prevalent in males, because the opsin genes responsible are located on the X chromosome.[2] Rarer genetic conditions causing color blindness include congenital blue–yellow color blindness (tritan type), blue cone monochromacy, and achromatopsia. Color blindness can also result from physical or chemical damage to the eye, the optic nerve, parts of the brain, or from medication toxicity.[2] Color vision also naturally degrades in old age.[2]

Diagnosis of color blindness is usually done with a color vision test, such as the Ishihara test. There is no cure for most causes of color blindness; however there is ongoing research into gene therapy for some severe conditions causing color blindness.[2] Minor forms of color blindness do not significantly affect daily life and the color blind automatically develop adaptations and coping mechanisms to compensate for the deficiency.[2] However, diagnosis may allow an individual, or their parents/teachers, to actively accommodate the condition.[1] Color blind glasses (e.g. EnChroma) may help the red–green color blind at some color tasks,[2] but they do not grant the wearer "normal color vision" or the ability to see "new" colors.[4] Some mobile apps can use a device's camera to identify colors.[2]

Depending on the jurisdiction, the color blind are ineligible for certain careers,[1] such as aircraft pilots, train drivers, police officers, firefighters, and members of the armed forces.[1][5] The effect of color blindness on artistic ability is controversial,[1][6] but a number of famous artists are believed to have been color blind.[1][7]

Classification

[edit]
These color charts show how different color blind people see compared to a person with normal color vision.

Much terminology has existed and does exist for the classification of color blindness, but the typical classification for color blindness follows the von Kries classifications,[8] which uses severity and affected cone for naming.

Based on severity

[edit]

Based on clinical appearance, color blindness may be described as total or partial. Total color blindness (monochromacy) is much less common than partial color blindness.[9] Partial color blindness includes dichromacy and anomalous trichromacy, but is often clinically defined as mild, moderate or strong.

Monochromacy

[edit]

Monochromacy is often called total color blindness since there is no ability to see color. Although the term may refer to acquired disorders such as cerebral achromatopsia, it typically refers to congenital color vision disorders, namely rod monochromacy and blue cone monochromacy.[10][11]

In cerebral achromatopsia, a person cannot perceive colors even though the eyes are capable of distinguishing them. Some sources do not consider these to be true color blindness, because the failure is of perception, not of vision. They are forms of visual agnosia.[11]

Monochromacy is the condition of possessing only a single channel for conveying information about color. Monochromats are unable to distinguish any colors and perceive only variations in brightness. Congenital monochromacy occurs in two primary forms:

  1. Rod monochromacy, frequently called complete achromatopsia, where the retina contains no cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.
  2. Cone monochromacy is the condition of having only a single class of cone. A cone monochromat can have good pattern vision at normal daylight levels, but will not be able to distinguish hues. Cone monochromacy is divided into classes defined by the single remaining cone class. However, red and green cone monochromats have not been definitively described in the literature. Blue cone monochromacy is caused by lack of functionality of L (red) and M (green) cones, and is therefore mediated by the same genes as red–green color blindness (on the X chromosome). Peak spectral sensitivities are in the blue region of the visible spectrum (near 440 nm). People with this condition generally show nystagmus ("jiggling eyes"), photophobia (light sensitivity), reduced visual acuity, and myopia (nearsightedness).[12] Visual acuity usually falls to the 20/50 to 20/400 range.

Dichromacy

[edit]

Dichromats can match any color they see with some mixture of just two primary colors (in contrast to those with normal sight (trichromats) who require three primary colors for matching).[10] Dichromats usually know they have a color vision problem, and it can affect their daily lives. Dichromacy in humans includes protanopia, deuteranopia, and tritanopia. Out of the male population, 2% have severe difficulties distinguishing between red, orange, yellow, and green (orange and yellow are different combinations of red and green light). Colors in this range, which appear very different to a normal viewer, appear to a dichromat to be the same or a similar color. The terms protanopia, deuteranopia, and tritanopia come from Greek, and respectively mean "inability to see (anopia) with the first (prot-), second (deuter-), or third (trit-) [cone]".

Anomalous trichromacy

[edit]

Anomalous trichromacy is the mildest type of color deficiency and is usually characterized by the inability to distinguish between colors which are distinguishable to a person with normal color vision[citation needed], but the severity ranges from almost dichromacy (strong) to almost normal trichromacy (mild).[13] In fact, many mild anomalous trichromats have very little difficulty carrying out tasks that require normal color vision and some may not even be aware that they have a color vision deficiency. The types of anomalous trichromacy include protanomaly, deuteranomaly and tritanomaly. It is approximately three times more common than dichromacy.[14] Anomalous trichromats exhibit trichromacy, but the color matches they make differ from normal trichromats. In order to match a given spectral yellow light, protanomalous observers need more red light in a red/green mixture than a normal observer, and deuteranomalous observers need more green. This difference can be measured by an instrument called an Anomaloscope, where red and green lights are mixed by a subject to match a yellow light.[15]

Based on affected cone

[edit]

There are two major types of color blindness: difficulty distinguishing between red and green, and difficulty distinguishing between blue and yellow.[16][17][dubiousdiscuss] These definitions are based on the phenotype of the partial color blindness. Clinically, it is more common to use a genotypical definition, which describes which cone/opsin is affected.

Red–green color blindness

[edit]

Red–green color blindness includes protan and deutan CVD. Protan CVD is related to the L-cone and includes protanomaly (anomalous trichromacy) and protanopia (dichromacy). Deutan CVD is related to the M-cone and includes deuteranomaly (anomalous trichromacy) and deuteranopia (dichromacy).[18][19] The phenotype (visual experience) of deutans and protans is quite similar. Common colors of confusion include red/brown/green/yellow as well as blue/purple. Both forms are almost always symptomatic of congenital red–green color blindness, so affects males disproportionately more than females.[20] This form of color blindness is sometimes referred to as daltonism after John Dalton, who had red–green dichromacy. In some languages, daltonism is still used to describe red–green color blindness.

Illustration of the distribution of cone cells in the fovea of a normal trichromatic retina (left), and a protanopic retina. The center of the fovea holds very few blue-sensitive cones.

  • Protan (2% of males): Lacking, or possessing anomalous L-opsins for long-wavelength sensitive cone cells. Protans have a neutral point at a cyan-like wavelength around 492 nm (see spectral color for comparison)—that is, they cannot discriminate light of this wavelength from white. For a protanope, the brightness of red is much reduced compared to normal.[21] This dimming can be so pronounced that reds may be confused with black or dark gray, and red traffic lights may appear to be extinguished. They may learn to distinguish reds from yellows primarily on the basis of their apparent brightness or lightness, not on any perceptible hue difference. Violet, lavender, and purple are indistinguishable from various shades of blue. A very few people have been found who have one normal eye and one protanopic eye. These unilateral dichromats report that with only their protanopic eye open, they see wavelengths shorter than neutral point as blue and those longer than it as yellow.

  • Deutan (6% of males): Lacking, or possessing anomalous M-opsins for medium-wavelength sensitive cone cells. Their neutral point is at a slightly longer wavelength, 498 nm, a more greenish hue of cyan. Deutans have the same hue discrimination problems as protans, but without the dimming of long wavelengths. Deuteranopic unilateral dichromats report that with only their deuteranopic eye open, they see wavelengths shorter than neutral point as blue and longer than it as yellow.[22]

Blue–yellow color blindness

[edit]

Blue–yellow color blindness includes tritan CVD. Tritan CVD is related to the S-cone and includes tritanomaly (anomalous trichromacy) and tritanopia (dichromacy). Blue–yellow color blindness is much less common than red–green color blindness, and more often has acquired causes than genetic. Tritans have difficulty discerning between bluish and greenish hues.[23] Tritans have a neutral point at 571 nm (yellowish).[24][25]

  • Tritan (< 0.01% of individuals): Lacking, or possessing anomalous S-opsins or short-wavelength sensitive cone cells. Tritans see short-wavelength colors (blue, indigo and spectral violet) as greenish and drastically dimmed, some of these colors even as black. Yellow and orange are indistinguishable from white and pink respectively, and purple colors are perceived as various shades of red. Unlike protans and deutans, the mutation for this color blindness is carried on chromosome 7. Therefore, it is not sex-linked—it is equally prevalent in both males and female). The OMIM gene code for this mutation is 304000 "Colorblindness, Partial Tritanomaly".[26]

  • Tetartan is a hypothetical "fourth type" of color blindness, and a type of blue–yellow color blindness. Given the molecular basis of human color vision, it is unlikely this type could exist.[27]

Summary of cone complements

[edit]

The below table shows the cone complements for different types of human color vision. The cone complement contains the types of cones (or their opsins) expressed by an individual.

Type of color blindness Cone complement[a] Types of color vision
Red Green Blue
N A N A N A
1 Normal vision Trichromacy Normal
2 Protanomaly Anomalous trichromacy Partial
color
blindness
Red–
green
3 Protanopia Dichromacy
4 Deuteranomaly Anomalous trichromacy
5 Deuteranopia Dichromacy
6 Tritanomaly Anomalous trichromacy Blue–
yellow
7 Tritanopia Dichromacy
8 Red-cone monochromacy Monochromacy Total color blindness
9 Green-cone monochromacy Monochromacy
10 Blue-cone monochromacy Monochromacy
11 Achromatopsia Achromacy
  1. ^ The "N" column indicates there are cones sensitive for that color present and they are of the normal type. Whereas "A" indicates there are cones sensitive for that color but they are anomalous or abnormal. Black cells are for absent cones. Therefore, two black cells for a color would be there are no cones sensitive for that color present. The cone complement contains the types of cones (or their opsins) expressed by an individual.

Presentation

[edit]

A color blind person will have decreased (or no) color discrimination along the red–green axis, blue–yellow axis, or both. It is a common misconception that color blindness always equals monochromacy.[28][29] The vast majority of the color blind are only affected on their red–green axis.

The first indication of color blindness generally consists of a person using the wrong color for an object, such as when painting, or calling a color by the wrong name. The colors that are confused are very consistent among people with the same type of color blindness.

Confusion colors

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Confusion lines for the three types of dichromacy superimposed on CIEXYZ color space

Confusion colors are pairs or groups of colors that will often be mistaken by the color blind. Confusion colors for red–green color blindness include:

  • cyan and grey
  • rose-pink and grey
  • blue and purple
  • yellow and neon green
  • red, green, orange, brown

Confusion colors for tritan include:

  • yellow and grey
  • blue and green
  • dark blue/violet and black
  • violet and yellow-green
  • red and rose-pink

These colors of confusion are defined quantitatively by straight confusion lines plotted in CIEXYZ, usually plotted on the corresponding chromaticity diagram. The lines all intersect at a copunctal point, which varies with the type of color blindness.[30] Chromaticities along a confusion line will appear metameric to dichromats of that type. Anomalous trichromats of that type will see the chromaticities as metameric if they are close enough, depending on the strength of their CVD. For two colors on a confusion line to be metameric, the chromaticities first have to be made isoluminant, meaning equal in lightness. Also, colors that may be isoluminant to the standard observer may not be isoluminant to a person with dichromacy.

Color tasks

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Cole describes four color tasks, all of which are impeded to some degree by color blindness:[31]

  • Comparative – When multiple colors must be compared, such as with mixing paint
  • Connotative – When colors are given an implicit meaning, such as red = stop
  • Denotative – When identifying colors, for example by name, such as "where is the yellow ball?"
  • Aesthetic – When colors look nice – or convey an emotional response – but do not carry explicit meaning

The following sections describe specific color tasks with which the color blind typically have difficulty.

Food

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Simulation of the normal (top half of photo) and dichromatic (lower half) perception of red and green apples. People with normal color vision see the apples in the lower half as yellowish; people with red–green color blindness may not spot that difference between the upper and lower halves.

Color blindness causes difficulty with the connotative color tasks associated with selecting or preparing food. Selecting food for ripeness can be difficult; the green–yellow transition of bananas is particularly hard to identify. It can also be difficult to detect bruises, mold, or rot on some foods, to determine when meat is done by color, to distinguish some varietals, such as a Braeburn vs. a Granny Smith apple, or to distinguish colors associated with artificial flavors (e.g. jelly beans, sports drinks).

Skin color

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Changes in skin color due to bruising, sunburn, rashes or even blushing are easily missed by the red–green color blind.

Traffic lights

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The dangerous inverted traffic light in Syracuse, New York
The lack of standard positional clues makes this light difficult to interpret.

The colors of traffic lights can be difficult for red–green color-blind people. This difficulty includes distinguishing red/amber lights from sodium street lamps, distinguishing green lights (closer to cyan) from white lights, and distinguishing red from amber lights, especially when there are no positional clues (see image).

The main coping mechanism to overcome these challenges is to memorize the position of lights. The order of the common triplet traffic light is standardized as red–amber–green from top to bottom or left to right. Cases that deviate from this standard are rare. One such case is a traffic light in Tipperary Hill in Syracuse, New York, which is upside-down (green–amber–red top to bottom) due to the sentiments of its Irish American community.[32] The light has been criticized due to the potential hazard it poses for color blind drivers.[33]

Horizontal traffic light in Halifax, Nova Scotia, Canada

There are several other features of traffic lights that can that help color-blind people. British Rail signals use more easily identifiable colors: The red is blood red, the amber is yellow and the green is a bluish color.[citation needed] Most British road traffic lights are mounted vertically on a black rectangle with a white border (forming a "sighting board"), so that drivers can more easily look for the position of the light. In the eastern provinces of Canada, traffic lights are sometimes differentiated by shape in addition to color: square for red, diamond for yellow, and circle for green (see image).

Signal lights

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Navigation lights in marine and aviation settings employ red and green lights to signal the relative position of other ships or aircraft. Railway signal lights also rely heavily on red–green–yellow colors. In both cases, these color combinations can be difficult for the red–green color blind. Lantern Tests are a common means of simulating these light sources to determine not necessarily whether someone is color blind, but whether they can functionally distinguish these specific signal colors. Those who cannot pass this test are generally completely restricted from working on aircraft, ships or rail, for example.

Fashion

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Color analysis is the analysis of color in its use in fashion, to determine personal color combinations that are most aesthetically pleasing.[34] Colors to combine can include clothing, accessories, makeup, hair color, skin color, eye color, etc. Color analysis involves many aesthetic and comparative color task that can be difficult for the color blind.

Art

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Inability to distinguish color does not necessarily preclude the ability to become a celebrated artist. The 20th century expressionist painter Clifton Pugh, three-time winner of Australia's Archibald Prize, on biographical, gene inheritance and other grounds has been identified as a person with protanopia.[35] 19th century French artist Charles Méryon became successful by concentrating on etching rather than painting after he was diagnosed as having a red–green deficiency.[36] Jin Kim's red–green color blindness did not stop him from becoming first an animator and later a character designer with Walt Disney Animation Studios.[37]

Advantages

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Deuteranomals are better at distinguishing different shades of khaki, which may be advantageous when identifying predators, foods, or camouflages hidden among foliage. A 2005 study used a series of desaturated green disks painted with different mixtures of two yellow and two blue pigments. The colors were chosen to be distinguishable by a model deuteranomalous observer, while appearing as near-identical metamers to a normal observer. The study found that deuteranomalous subjects could consistently tell the difference between the colors, while those with normal color vision could not.[38][39]

Color blind observers tend to learn to use texture and shape cues more and so may be able to penetrate camouflage that has been designed to deceive individuals with normal color vision.[40][41]

Some tentative evidence finds that the color blind observers are better at penetrating certain color camouflages. Such findings may give an evolutionary reason for the high rate of red–green color blindness.[40] There is also a study suggesting that deuteranomals can distinguish colors that people with normal color vision are not able to distinguish.[39] In World War II, color blind observers were reported as potentially more able to penetrate camouflage.[42] Color blind observers also have better scotopic vision due to reduction of active inhibition of rods by cones.[43]

In the presence of chromatic noise, the color blind observers are more capable of seeing a luminous signal, as long as the chromatic noise appears metameric to them.[44] This is the effect behind most "reverse" pseudoisochromatic plates (e.g. "hidden digit" Ishihara plates) that are discernible to the color blind observers but unreadable to people with typical color vision.[45]

Digital design

[edit]
snippet of colored cells in a table (foreground), surrounded in background showing how the image appears in color-blindness simulations.
Testing the colors of a web chart, (center), to ensure that no information is lost to the various forms of color blindness

Color codes are useful tools for designers to convey information. The interpretation of this information requires users to perform a variety of color tasks, usually comparative but also sometimes connotative or denotative. However, these tasks are often problematic for the color blind when design of the color code has not followed best practices for accessibility.[46] For example, one of the most ubiquitous connotative color codes is the "red means bad and green means good" or similar systems, based on the classic signal light colors. However, this color coding will almost always be undifferentiable to deutans or protans, and can instead be supplemented with a parallel connotative system (symbols, smileys, etc.).

Good practices to ensure design is accessible to the color blind include:

  • When possible (e.g. in simple video games or apps), allowing the user to choose their own colors is the most inclusive design practice.
  • Using other signals that are parallel to the color coding, such as patterns, shapes, size or order.[47] This not only helps the color blind, but also aids understanding by normally sighted people by providing them with multiple reinforcing cues.
  • Using brightness contrast (different shades) in addition to color contrast (different hues)
  • To achieve good contrast, conventional wisdom suggests converting a (digital) design to grayscale to ensure there is sufficient brightness contrast between colors. However, this does not account for the different perceptions of brightness to different varieties of color blindness, especially protan CVD, tritan CVD and monochromacy.
  • Viewing the design through a CVD Simulator to ensure the information carried by color is still sufficiently conveyed. At a minimum, the design should be tested for deutan CVD, the most common kind of color blindness.
  • Maximizing the area of colors (e.g. increase size, thickness or boldness of colored element) makes the color easier to identify. Color contrast improves as the angle the color subtends on the retina increases. This applies to all types of color vision.
  • Maximizing brightness (value) and saturation (chroma) of the colors to maximize color contrast.
  • Converting connotative tasks to comparative tasks by including a legend, even when the meaning is considered obvious (e.g. red means danger).
  • Avoiding denotative color tasks (color naming) when possible. Some denotative tasks can be converted to comparative tasks by depicting the actual color whenever the color name is mentioned; for example, colored typography in "purple",  purple  or "purple ()".
  • For denotative tasks (color naming), using the most common shades of colors. For example, green and yellow are colors of confusion in red–green CVD, but it is not common to mix forest green () with bright yellow (). Mistakes by the color blind increase drastically when uncommon shades are used, e.g. neon green () with dark yellow ().
  • For denotative tasks, using colors that are classically associated with a color name. For example, using "firetruck" red () instead of burgundy () to represent the word "red".

Color selection in design

[edit]
Colors of board game pieces must be carefully chosen to be accessible to the color blind.

A common task for designers is to select a subset of colors (qualitative colormap) that are as mutually differentiable as possible (salient). For example, player pieces in a board game should be as different as possible.

Classic advice suggests using Brewer palettes,[citation needed] but several of these are not actually accessible to the color blind.[which?]

An issue with color selection is that the colors with the greatest contrast to the red–green color blind tend to be colors of confusion to the blue–yellow color blind and vice versa.

In 2018, UX designer Allie Ofisher published 3 color palettes with 6 colors each, distinguishable for all variants of color blindness.[48][self-published source?]

Sequential colormaps

[edit]
Three sequential colormaps that have been designed to be accessible to the color blind

A common task for data visualization is to represent a color scale, or sequential colormap, often in the form of a heat map or choropleth. Several scales are designed with special consideration for the color blind and are widespread in academia, including Cividis,[49] Viridis[49] and Parula. These comprise a light-to-dark scale superimposed on a yellow-to-blue scale, making them monotonic and perceptually uniform to all forms of color vision.

Causes

[edit]

Color blindness is any deviation of color vision from normal trichromatic color vision (often as defined by the standard observer) that produces a reduced gamut. Mechanisms for color blindness are related to the functionality of cone cells, and often to the expression of photopsins, the photopigments that 'catch' photons and thereby convert light into chemical signals.

Color vision deficiencies can be classified as inherited or acquired.

  • Inherited: inherited or congenital/genetic color vision deficiencies are most commonly caused by mutations of the genes encoding opsin proteins. However, several other genes can also lead to less common and/or more severe forms of color blindness.
  • Acquired: color blindness that is not present at birth, may be caused by chronic illness, accidents, medication, chemical exposure or simply normal aging processes.[50]

Genetics

[edit]

Color blindness is typically an inherited genetic disorder. The most common forms of color blindness are associated with the Photopsin genes, but the mapping of the human genome has shown there are many causative mutations that do not directly affect the opsins. Mutations capable of causing color blindness originate from at least 19 different chromosomes and 56 different genes (as shown online at the Online Mendelian Inheritance in Man [OMIM]).

Genetics of red–green color blindness

[edit]
A chart showing likelihoods of genetic combinations and outcomes for red–green color blindness
Punnett squares for each combination of parents' color vision status giving probabilities of their offsprings' status; A superscript 'c' denotes a chromosome with an affected gene.

By far the most common form of color blindness is congenital red–green color blindness (Daltonism), which includes protanopia/protanomaly and deuteranopia/deuteranomaly. These conditions are mediated by the OPN1LW and OPN1MW genes, respectively, both on the X chromosome. An 'affected' gene is either missing (as in Protanopia and Deuteranopia - Dichromacy) or is a chimeric gene (as in Protanomaly and Deuteranomaly).

Since the OPN1LW and OPN1MW genes are on the X chromosome, they are sex-linked, and therefore affect males and females disproportionately. Because the color blind 'affected' alleles are recessive, color blindness specifically follows X-linked recessive inheritance. Males have only one X chromosome (XY), and females have two (XX); Because the male only has one of each gene, if it is affected, the male will be color blind. Because a female has two alleles of each gene (one on each chromosome), if only one gene is affected, the dominant normal alleles will "override" the affected, recessive allele and the female will have normal color vision. However, if the female has two mutated alleles, she will still be color blind. This is why there is a disproportionate prevalence of color blindness, with ~8% of males exhibiting color blindness and ~0.5% of females.

Genetics of blue–yellow color blindness

[edit]

Congenital blue–yellow color blindness is a much rarer form of color blindness including tritanopia/tritanomaly. These conditions are mediated by the OPN1SW gene on Chromosome 7 which encodes the S-opsin protein and follows autosomal dominant inheritance.[51] The cause of blue–yellow color blindness is not analogous to the cause of red–green color blindness, i.e. the peak sensitivity of the S-opsin does not shift to longer wavelengths. Rather, there are 6 known point mutations of OPN1SW that degrade the performance of the S-cones.[52] The OPN1SW gene is almost invariant in the human population. Congenital tritan defects are often progressive, with nearly normal trichromatic vision in childhood (e.g. mild tritanomaly) progressing to dichromacy (tritanopia) as the S-cones slowly die.[52] Tritanomaly and tritanopia are therefore different penetrance of the same disease, and some sources have argued that tritanomaly therefore be referred to as incomplete tritanopia.[51]

Other genetic causes

[edit]

Several inherited diseases are known to cause color blindness, including achromatopsia, cone dystrophy, Leber's congenital amaurosis and retinitis pigmentosa. These can be congenital or commence in childhood or adulthood. They can be static/stationary or progressive. Progressive diseases often involve deterioration of the retina and other parts of the eye, so often progress from color blindness to more severe visual impairments, up to and including total blindness.

Non-genetic causes

[edit]

Physical trauma can cause color blindness, either neurologically – brain trauma which produces swelling of the brain in the occipital lobe – or retinally, either acute (e.g. from laser exposure) or chronic (e.g. from ultraviolet light exposure).

Color blindness may also present itself as a symptom of degenerative diseases of the eye, such as cataract and age-related macular degeneration, and as part of the retinal damage caused by diabetes. Vitamin A deficiency may also cause color blindness.[53]

Color blindness may be a side effect of prescription drug use. For example, red–green color blindness can be caused by ethambutol, a drug used in the treatment of tuberculosis.[54] Blue–yellow color blindness can be caused by sildenafil, an active component of Viagra.[55] Hydroxychloroquine can also lead to hydroxychloroquine retinopathy, which includes various color defects.[56] Exposure to chemicals such as styrene[57] or organic solvents[58][59] can also lead to color vision defects.

Simple colored filters can also create mild color vision deficiencies. John Dalton's original hypothesis for his deuteranopia was actually that the vitreous humor of his eye was discolored:

I was led to conjecture that one of the humours of my eye must be a transparent, but coloured, medium, so constituted as to absorb red and green rays principally... I suppose it must be the vitreous humor.

— John Dalton, Extraordinary facts relating to the vision of colours: with observations (1798)

An autopsy of his eye after his death in 1844 showed this to be definitively untrue,[60] though other filters are possible. Actual physiological examples usually affect the blue–yellow opponent channel and are named Cyanopsia and Xanthopsia, and are most typically an effect of yellowing or removal of the lens.

The opponent channels can also be affected by the prevalence of certain cones in the retinal mosaic. The cones are not equally prevalent and not evenly distributed in the retina. When the number of one of these cone types is significantly reduced, this can also lead to or contribute to a color vision deficiency. This is one of the causes of tritanomaly.

Some people are also unable to distinguish between blue and green, which appears to be a combination of culture and exposure to UV-light.[61]

Diagnosis

[edit]

Color vision test

[edit]

The main method for diagnosing a color vision deficiency is in testing the color vision directly. The Ishihara color test is the test most often used to detect red–green deficiencies and most often recognized by the public.[1] Some tests are clinical in nature, designed to be fast, simple, and effective at identifying broad categories of color blindness. Others focus on precision and are generally available only in academic settings.[62]

  • Pseudoisochromatic plates, a classification which includes the Ishihara color test and HRR test, embed a figure in the plate as a number of spots surrounded by spots of a slightly different color. These colors must appear identical (metameric) to the color blind but distinguishable to color normals. Pseudoisochromatic plates are used as screening tools because they are cheap, fast, and simple, but they do not provide precise diagnosis of CVD.
  • Lanterns, such as the Farnsworth Lantern Test, project small colored lights to a subject, who is required to identify the color of the lights. The colors are those of typical signal lights, i.e. red, green, and yellow, which also happen to be colors of confusion of red–green CVD. Lanterns do not diagnose color blindness, but they are occupational screening tests to ensure an applicant has sufficient color discrimination to be able to perform a job.
A Farnsworth D-15 test
  • Arrangement tests can be used as screening or diagnostic tools. The Farnsworth–Munsell 100 hue test is very sensitive, but the Farnsworth D-15 is a simplified version used specifically for screening for CVD. In either case, the subject is asked to arrange a set of colored caps or chips to form a gradual transition of color between two anchor caps.[63]
  • Anomaloscopes are typically designed to detect red–green deficiencies and are based on the Rayleigh match, which compares a mixture of red and green light in variable proportions to a fixed spectral yellow of variable luminosity. The subject must change the two variables until the colors appear to match. They are expensive and require expertise to administer, so they are generally only used in academic settings.

Genetic testing

[edit]

While genetic testing cannot directly evaluate a subject's color vision (phenotype), most congenital color vision deficiencies are well-correlated with genotype. Therefore, the genotype can be directly evaluated and used to predict the phenotype. This is especially useful for progressive forms that do not have a strongly color deficient phenotype at a young age. However, it can also be used to sequence the L- and M-Opsins on the X-chromosome, since the most common alleles of these two genes are known and have even been related to exact spectral sensitivities and peak wavelengths. A subject's color vision can therefore be classified through genetic testing,[64] but this is just a prediction of the phenotype, since color vision can be affected by countless non-genetic factors such as your cone mosaic.

Management

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Despite much recent improvement in gene therapy for color blindness, there is currently no FDA approved treatment for any form of CVD, and otherwise no cure for CVD currently exists. Management of the condition by using lenses to alleviate symptoms or smartphone apps to aid with daily tasks is possible.

Lenses

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There are three kinds of lenses that an individual can wear that can increase their accuracy in some color related tasks (although none of these will "fix" color blindness or grant the wearer normal color vision):

  • A red-tint contact lens worn over the non-dominant eye will leverage binocular disparity to improve discrimination of some colors. However, it can make other colors more difficult to distinguish. A 1981 review of various studies to evaluate the effect of the X-chrom (one brand) contact lens concluded that, while the lens may allow the wearer to achieve a better score on certain color vision tests, it did not correct color vision in the natural environment.[65] A case history using the X-Chrom lens for a rod monochromat is reported[66] and an X-Chrom manual is online.[67]
  • Tinted glasses (e.g. Pilestone/Colorlite glasses) apply a tint (e.g. magenta) to incoming light that can distort colors in a way that makes some color tasks easier to complete. These glasses can circumvent many color vision tests, though this is typically not allowed.[68]
  • Glasses with a notch filter (e.g. EnChroma glasses) filter a narrow band of light that excites both the L and M cones (yellow–green wavelengths).[69] When combined with an additional stopband in the short wavelength (blue) region, these lenses may constitute a neutral-density filter (have no color tint). They improve on the other lens types by causing less distortion of colors and will essentially increase the saturation of some colors. They will only work on trichromats (anomalous or normal), and unlike the other types, do not have a significant effect on Dichromats. The glasses do not significantly increase one's ability on color blind tests.[4]

Aids

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Many mobile and computer applications have been developed to aid color blind individuals in completing color tasks:

  • Some applications (e.g. color pickers) can identify the name (or coordinates within a color space) of a color on screen or the color of an object by using the device's camera.
  • Some applications will make images easier to interpret by the color blind by enhancing color contrast in natural images and/or information graphics. These methods are generally called daltonization algorithms.[70]
  • Some applications can simulate color blindness by applying a filter to an image or screen that reduces the gamut of an image to that of a specific type of color blindness. While they do not directly help color blind people, they allow those with normal color vision to understand how the color blind see the world. Their use can help improve inclusive design by allowing designers to simulate their own images to ensure they are accessible to the color blind.[71]

In 2003, a cybernetic device called eyeborg was developed to allow the wearer to hear sounds representing different colors.[72] Achromatopsic artist Neil Harbisson was the first to use such a device in early 2004; the eyeborg allowed him to start painting in color by memorizing the sound corresponding to each color. In 2012, at a TED Conference, Harbisson explained how he could now perceive colors outside the ability of human vision.[73]

Epidemiology

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Rates of color blindness[clarification needed][citation needed]
Males Females
Dichromacy 2.4% 0.03%
Protanopia 1.3% 0.02%
Deuteranopia 1.2% 0.01%
Tritanopia 0.008% 0.008%
Anomalous trichromacy 6.3% 0.37%
Protanomaly 1.3% 0.02%
Deuteranomaly 5.0% 0.35%
Tritanomaly 0.0001% 0.0001%

Color blindness affects a large number of individuals, with protans and deutans being the most common types.[18] In individuals with Northern European ancestry, as many as 8 percent of men and 0.4 percent of women experience congenital color deficiency.[74][75] Interestingly, even Dalton's first paper already arrived upon this 8% number:[76]

...it is remarkable that, out of 25 pupils I once had, to whom I explained this subject, 2 were found to agree with me...

— John Dalton, Extraordinary facts relating to the vision of colours: with observations (1798)

History

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An 1895 illustration of normal vision and various kinds of color blindness, using the Flag of the United States as an example

During the 17th and 18th century, several philosophers hypothesized that not all individuals perceived colors in the same way:[77]

...there is no reason to suppose a perfect resemblance in the disposition of the Optic Nerve in all Men, since there is an infinite variety in every thing in Nature, and chiefly in those that are Material, 'tis therefore very probable that all Men see not the same Colours in the same Objects.

— Nicolas Malebranche, The search after truth (1674) [78]

In the power of conceiving colors, too, there are striking differences among individuals: and, indeed, I am inclined to suspect, that, in the greater number of instances, the supposed defects of sight in this respect ought to be ascribed rather to a defect in the power of conception.

— Dugald Stewart, Elements of the philosophy of the human mind (1792) [79]

Gordon Lynn Walls claims[80] that the first well-circulated case study of color blindness was published in a 1777 letter from Joseph Huddart to Joseph Priestley, which described "Harris the Shoemaker" and several of his brothers with what would later be described as protanopia. There appear to be no earlier surviving historical mentions of color blindness, despite its prevalence.[80]

The phenomenon only came to be scientifically studied in 1794, when English chemist John Dalton gave the first account of color blindness in a paper to the Manchester Literary and Philosophical Society, which was published in 1798 as Extraordinary Facts relating to the Vision of Colours: With Observations.[81][76] Genetic analysis of Dalton's preserved eyeball confirmed him as having deuteranopia in 1995, some 150 years after his death.[82]

Influenced by Dalton, German writer J. W. von Goethe studied color vision abnormalities in 1798 by asking two young subjects to match pairs of colors.[83]

In 1837, August Seebeck first discriminated between protans and deutans (then as class I + II).[84][80] He was also the first to develop an objective test method, where subjects sorted colored sheets of paper, and was the first to describe a female colorblind subject.[85]

In 1875, the Lagerlunda train crash in Sweden brought color blindness to the forefront. Following the crash, Professor Alarik Frithiof Holmgren, a physiologist, investigated and concluded that the color blindness of the engineer (who had died) had caused the crash. Professor Holmgren then created the first test for color vision using multicolored skeins of wool to detect color blindness and thereby exclude the color blind from jobs in the transportation industry requiring color vision to interpret safety signals.[86] However, there is a claim that there is no firm evidence that color deficiency did cause the collision, or that it might have not been the sole cause.[87]

In 1920, Frederick William Edridge-Green devised an alternative theory of color vision and color blindness based on Newton's classification of 7 fundamental colors (ROYGBIV). Edridge-Green classified color vision based on how many distinct colors a subject could see in the spectrum. Normal subjects were termed hexachromic as they could not discern Indigo. Subjects with superior color vision, who could discern indigo, were heptachromic. The color blind were therefore dichromic (equivalent to dichromacy) or tri-, tetra- or pentachromic (anomalous trichromacy).[88][89]

Society and culture

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In the United States, under federal anti-discrimination laws such as the Americans with Disabilities Act, color vision deficiencies have not been found to constitute a disability that triggers protection from workplace discrimination.

A Brazilian court ruled that the color blind are protected by the Inter-American Convention on the Elimination of All Forms of Discrimination against Person with Disabilities.[90][91][92] At trial, it was decided that the carriers of color blindness have a right of access to wider knowledge, or the full enjoyment of their human condition.[citation needed]

Occupations

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Color blindness may make it difficult or impossible for a person to engage in certain activities. Persons with color blindness may be legally or practically barred from occupations in which color perception is an essential part of the job (e.g., mixing paint colors), or in which color perception is important for safety (e.g., operating vehicles in response to color-coded signals). This occupational safety principle originates from the aftermath of the 1875 Lagerlunda train crash, which Alarik Frithiof Holmgren blamed on the color blindness of the engineer and created the first occupational screening test (Holmgren's wool test) against the color blind.[86]

...I consider that to [Holmgren] above all others do we owe the present and future control of color-blindness on land and sea, by which life and property are safer, and the risks of travelling less.

— Benjamin Joy Jeffries, Color-blindness: Its Danger & Its Detection (1879)

Color vision is important for occupations using telephone or computer networking cabling, as the individual wires inside the cables are color-coded using green, orange, brown, blue and white colors.[93] Electronic wiring, transformers, resistors, and capacitors are color-coded as well, using black, brown, red, orange, yellow, green, blue, violet, gray, white, silver, and gold.[94]

Participation, officiating and viewing sporting events can be impacted by color blindness. Professional football players Thomas Delaney and Fabio Carvalho have discussed the difficulties when color clashes occur, and research undertaken by FIFA has shown that enjoyment and player progression can be hampered by issues distinguishing the difference between the pitch and training objects or field markings.[95] Snooker World Champions Mark Williams and Peter Ebdon sometimes need to ask the referee for help distinguishing between the red and brown balls due to their color blindness. Both have played foul shots on notable occasions by potting the wrong ball.[96][97][98]

Driving

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Red–green color blindness can make it difficult to drive, primarily due to the inability to differentiate red–amber–green traffic lights. Protans are further disadvantaged due to the darkened perception of reds, which can make it more difficult to quickly recognize brake lights.[99] In response, some countries have refused to grant driver's licenses to individuals with color blindness:

  • In April 2003, Romania removed color blindness from its list of disqualifying conditions for learner driver's licenses.[100][101] It is now qualified as a condition that could potentially compromise driver safety, therefore a driver may have to be evaluated by an authorized ophthalmologist to determine if they can drive safely. As of May 2008, there is an ongoing campaign to remove the legal restrictions that prohibit color blind citizens from getting driver's licenses.[102]
  • In June 2020, India relaxed its ban on driver's licenses for the color blind to now only apply to those with strong CVD. While previously restricted, those who test as mild or moderate can now pass the medical requirements.[103]
  • Australia instituted a tiered ban on the color blind from obtaining commercial driver's licenses in 1994. This included a ban for all protans, and a stipulation that deutans must pass the Farnsworth Lantern. The stipulation on deutans was revoked in 1997 citing a lack of available test facilities, and the ban on protans was revoked in 2003.[99]
  • All color blind individuals are banned from obtaining a driver's license in China[104] and since 2016 in Russia (2012 for dichromats).[105]

Piloting aircraft

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Although many aspects of aviation depend on color coding, only a few of them are critical enough to be interfered with by some milder types of color blindness. Some examples include color-gun signaling of aircraft that have lost radio communication, color-coded glide-path indications on runways, and the like. Some jurisdictions restrict the issuance of pilot credentials to persons with color blindness for this reason. Restrictions may be partial, allowing color-blind persons to obtain certification but with restrictions, or total, in which case color-blind persons are not permitted to obtain piloting credentials at all.[106]

In the United States, the Federal Aviation Administration requires that pilots be tested for normal color vision as part of their medical clearance in order to obtain the required medical certificate, a prerequisite to obtaining a pilot's certification. If testing reveals color blindness, the applicant may be issued a license with restrictions, such as no night flying and no flying by color signals—such a restriction effectively prevents a pilot from holding certain flying occupations, such as that of an airline pilot, although commercial pilot certification is still possible, and there are a few flying occupations that do not require night flight and thus are still available to those with restrictions due to color blindness (e.g., agricultural aviation). The government allows several types of tests, including medical standard tests (e.g., the Ishihara, Dvorine, and others) and specialized tests oriented specifically to the needs of aviation. If an applicant fails the standard tests, they will receive a restriction on their medical certificate that states: "Not valid for night flying or by color signal control". They may apply to the FAA to take a specialized test, administered by the FAA. Typically, this test is the "color vision light gun test". For this test an FAA inspector will meet the pilot at an airport with an operating control tower. The color signal light gun will be shone at the pilot from the tower, and they must identify the color. If they pass they may be issued a waiver, which states that the color vision test is no longer required during medical examinations. They will then receive a new medical certificate with the restriction removed. This was once a Statement of Demonstrated Ability (SODA), but the SODA was dropped, and converted to a simple waiver (letter) early in the 2000s.[107]

Research published in 2009 carried out by the City University of London's Applied Vision Research Centre, sponsored by the UK's Civil Aviation Authority and the U.S. Federal Aviation Administration, has established a more accurate assessment of color deficiencies in pilot applicants' red/green and yellow–blue color range which could lead to a 35% reduction in the number of prospective pilots who fail to meet the minimum medical threshold.[108]

See also

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References

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Further reading

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[edit]
Revisions and contributorsEdit on WikipediaRead on Wikipedia
from Grokipedia
Color blindness, more precisely termed color vision deficiency (CVD), is a spectrum of inherited visual impairments characterized by reduced ability to distinguish between certain hues, primarily due to dysfunctional photoreceptor cells in the that detect red, green, or blue light wavelengths. The condition arises mainly from genetic mutations affecting proteins in these cones, with red-green deficiencies (protanomaly, protanopia, deuteranomaly, deuteranopia) comprising the vast majority of cases as they stem from X-chromosome-linked recessive inheritance, disproportionately impacting males. Rarer forms include tritan defects (blue-yellow confusion, autosomal dominant) and (complete , autosomal recessive), which severely limit color perception altogether. Globally, CVD affects about 8% of males and 0.5% of females, with higher rates in some ethnic groups and minimal acquired cases from or . typically involves pseudoisochromatic plate tests like Ishihara charts, where affected individuals fail to discern embedded numerals amid dotted color patterns designed to exploit cone confusions. While CVD rarely causes total blindness, it poses practical challenges in fields requiring precise color differentiation, such as , electrical work, and , prompting adaptations like CVD-friendly palettes and filters, though no universal cure exists beyond experimental gene therapies.

Physiology of Color Vision

Normal Trichromatic Vision

Normal trichromatic vision in humans relies on three distinct classes of photoreceptors in the , each containing a specific with differential sensitivity to wavelengths of . The short-wavelength-sensitive (S) cones peak at approximately 420 nm in the blue-violet range, medium-wavelength-sensitive (M) cones at around 530 nm in the green range, and long-wavelength-sensitive (L) cones at about 560 nm in the yellow-red range. These overlapping curves enable the to encode color information through the relative stimulation of the cone types rather than absolute detection. The human retina contains roughly 6 million cones, constituting about 2-3% of total photoreceptors, with L-cones comprising approximately 60%, M-cones 30%, and S-cones 5-10% of the cone population. Cones are concentrated in the , where S-cones are sparsest and absent from the central , optimizing high-acuity daylight vision. Upon light absorption, photopigments in cones isomerize , triggering a phototransduction cascade that hyperpolarizes the cell and modulates release to bipolar cells. This cone-specific signaling converges in retinal ganglion cells, which project to the , where color-opponent processing refines hue discrimination. Trichromacy describes the capacity to match any perceivable color using mixtures of three monochromatic primaries, a principle demonstrated psychophysically and rooted in the three-cone mechanism. This system allows discrimination of over 1 million color shades under optimal conditions, far exceeding dichromatic or monochromatic vision. Genetic and physiological evidence confirms that evolved in primates, including humans, to enhance detection of ripe fruits and young foliage against foliage backgrounds. Approximately 92-95% of Caucasian males and over 99% of females exhibit protanomalous or deuteranomalous variants within normal trichromacy, though full anomalous trichromacy affects color matching precision.

Cone Photopigments and Spectral Sensitivity

The photopigments in human cone photoreceptors consist of proteins bound to the 11-cis-retinal, enabling light absorption across the through conformational changes upon capture. These pigments define the of each type, with absorption spectra characterized by broad, overlapping curves that peak at distinct wavelengths. In normal trichromatic vision, three classes—short-wavelength-sensitive (S), medium-wavelength-sensitive (M), and long-wavelength-sensitive (L)—provide the basis for color discrimination by differentially responding to light wavelengths. The S-cone photopigment, encoded by the OPN1SW gene on , exhibits peak absorption at approximately 420 nm, rendering S-cones most sensitive to blue-violet light. M- and L-cone photopigments, encoded by the X-linked OPN1MW and OPN1LW genes respectively, peak at about 534 nm and 564 nm, conferring sensitivity to green and red-orange wavelengths. These λmax values derive from microspectrophotometric measurements of isolated human retinas and psychophysical assessments in color-normal observers, with minor individual variations arising from polymorphisms in the genes that subtly shift absorption peaks by a few nanometers. The genes for M- and L- share over 96% sequence identity, differing primarily in substitutions at sites like positions 180 and 277 that tune their spectral properties. Spectral sensitivity functions, which quantify cone responsiveness across wavelengths after correcting for ocular media absorption and photopigment self-screening, show S-cone sensitivity dropping sharply beyond 500 nm, while M- and L-cone curves overlap extensively between 500–600 nm, maximizing discrimination in the yellowish region where human vision is most acute. These functions have been precisely estimated using techniques such as flicker photometry in dichromats (isolating single cone types) and genetic-informed modeling, yielding standardized "cone fundamentals" like those of Stockman and Sharpe, which align closely with direct pigment absorbance data. The overlapping sensitivities ensure redundant encoding of spectral information, enhancing signal reliability against noise, though they also explain common confusions in red-green regions for anomalous observers. S-cones constitute only 5–10% of cones and are absent from the central fovea, concentrating instead in peripheral , which influences their role in and blue-yellow opponent processing.

Classification

By Severity and Cone Involvement

Color vision deficiencies are categorized by the involvement of specific photoreceptor types—long-wavelength-sensitive (L or ), medium-wavelength-sensitive (M or ), and short-wavelength-sensitive (S or )—and by severity, which reflects the degree of functional impairment from altered spectral sensitivities or absences. Severity generally increases as the number of effective cone types decreases: anomalous involves all three cone types with one anomalous, permitting partial color discrimination; lacks one cone type entirely, causing more pronounced confusions; and features only one functional cone type or none, resulting in minimal to no color perception. In anomalous trichromacy, the most common form affecting approximately 6% of males, all cone types are present but one exhibits a shifted absorption , leading to milder defects where individuals retain some ability to distinguish hues based on the residual differences between cone signals. Protanomaly involves anomalous L-cones with peak sensitivity shifted toward shorter wavelengths, reducing red ; deuteranomaly affects M-cones similarly, often causing subtler green-red confusions; tritanomaly, rarer, shifts S-cone sensitivity. Severity in these cases depends on the magnitude of the spectral shift (e.g., Δλ_max values closer to normal yield milder defects), with discrimination thresholds elevated but not absent. Dichromacy represents moderate to severe deficiencies, occurring in about 2% of males for red-green types, where one cone class is non-functional, effectively reducing vision to two cone primaries and causing axis-specific confusions (e.g., red-green for protanopia and deuteranopia lacking L- or M-cones, respectively; blue-yellow for tritanopia lacking S-cones). These individuals match colors using only two cones, leading to complete inability to distinguish certain wavelengths along the confusion line. Monochromacy, the severest form and rare (affecting fewer than 0.005% of the population), involves either a single cone type (cone monochromacy, e.g., blue-cone monochromacy with only functional S-cones) or complete cone absence (rod monochromacy or achromatopsia), relying on rod photoreceptors for achromatic vision with high light sensitivity but no hue differentiation and nystagmus in congenital cases.

Red-Green Deficiencies

Red–green color vision deficiencies, encompassing protan and deutan defects, represent the predominant form of inherited color blindness, arising from dysfunction in the long-wavelength-sensitive (LWS or red) and medium-wavelength-sensitive (MWS or green) cone photoreceptors. These conditions impair the ability to discriminate hues along the red–green axis of the color spectrum, while blue–yellow discrimination remains largely intact. Affected individuals experience spectral confusions where reds, greens, oranges, and browns may appear desaturated, muted, or interchanged, with severity depending on whether the deficiency is dichromatic (complete absence of one cone type) or anomalous trichromatic (shifted spectral sensitivity of one cone type). Protan deficiencies specifically involve the LWS cones. Protanopia results from the complete absence of functional LWS cones, rendering individuals dichromats who rely on MWS and short-wavelength-sensitive (SWS or ) cones; this leads to reds appearing as dark grays or blacks, with reduced brightness perception for longer wavelengths. Protanomaly, conversely, features LWS cones with abnormally shifted peak sensitivity toward the region, causing reds to appear dimmer and greener than in normal vision, though some differentiation persists. Deutan deficiencies target MWS cones. Deuteranopia entails the absence of functional MWS cones, producing dichromatic vision where greens are indistinguishable from s, often simulated as a yellowish-brown . Deuteranomaly, the most prevalent subtype, involves MWS cones with peak sensitivity shifted toward the region, resulting in milder confusions where greens appear reddish and reds slightly desaturated, but overall brightness for reds is preserved unlike in protan defects. These deficiencies follow , with causative mutations primarily in the genes OPN1LW (for LWS) and OPN1MW (for MWS) clustered on the at locus Xq28. Males, possessing one X chromosome, express the trait if they inherit a mutant , whereas females require mutations on both X chromosomes for full expression, though heterozygous females may exhibit mild mosaicism due to . This explains the marked disparity in prevalence: approximately 8% of males and 0.4–0.5% of females of Northern European descent are affected, with global rates for red–green deficiencies ranging from 5–8% in males and 0.5–1% in females across diverse populations. Deuteranomaly accounts for roughly half of cases, followed by protanomaly, with the dichromatic forms (deuteranopia and protanopia) being rarer, each comprising about 1–2% of male deficiencies.
TypeCone AffectedSeverity ClassKey Visual EffectApproximate Male Prevalence (Caucasian)
ProtanopiaLWS absentDichromacyReds dark/dimmed; confusion with black/gray~1%
ProtanomalyLWS shiftedAnomalous trichromacyReds greener/dimmer~1%
DeuteranopiaMWS absentDichromacyGreens/reds indistinguishable; yellowish tones~1%
DeuteranomalyMWS shiftedAnomalous trichromacyGreens reddish; milder red–green confusion~5%
Prevalence data derive from large-scale surveys, such as those confirming 8% male and 0.4% female rates in European Caucasians via anomaloscope and plate testing. While acquired red–green losses can occur from diseases or toxins, congenital forms dominate, with no established environmental triggers altering genetic expression. typically involves pseudoisochromatic plates like Ishihara, which exploit red–green confusions, though confirmatory tests such as Rayleigh matching on anomaloscopes distinguish protan from deutan by quantifying spectral matching errors.

Blue-Yellow Deficiencies

Blue-yellow color deficiencies, known as tritan defects, arise from dysfunction or absence of short-wavelength-sensitive (S) cones, which are responsible for detecting blue light. These conditions impair the ability to discriminate between blue and yellow hues, as well as related colors like and violet. Unlike red-green deficiencies, tritan defects are rare and often acquired rather than congenital. Tritanopia represents the severe form, characterized by complete absence of functional S-cones, resulting in dichromatic vision reliant on medium- (M) and long-wavelength (L) cones. Individuals with tritanopia confuse blues with greens and yellows with pinks or grays; for instance, the sky may appear greenish, and violet shades indistinguishable from red. Tritanomaly, the milder anomalous trichromatic variant, features mutated S-cones with shifted , leading to reduced but not eliminated blue perception and subtler confusions in the blue-yellow axis. Congenital tritan defects follow autosomal dominant , affecting males and females equally, with estimated at approximately 0.008% in both sexes. Acquired forms, more common overall for tritan deficiencies, stem from factors such as retinal diseases (e.g., or ), diabetes, cataracts, or toxic exposures, often progressing with age. Genetic mutations typically involve the OPN1SW gene encoding the S-opsin . These deficiencies differ from , an X-linked monochromatopsia where only S-cones function, yielding blue-only vision rather than blue insensitivity. Diagnosis relies on specialized tests beyond standard Ishihara plates, which are ineffective for tritan defects; instead, the Farnsworth-Munsell 100 Hue Test reveals errors concentrated in blue-yellow regions, while Rayleigh anomaloscopes adapted for tritan or unique blue-yellow matching confirm the deficiency type. No cure exists, but awareness aids in adaptations like relying on cues for color tasks.

Monochromacy and Achromatopsia

represents the most severe form of deficiency, characterized by the presence of only one functional photopigment type or complete absence of function, resulting in perception limited to without hue discrimination. In contrast to , which allows limited color differentiation via two types, eliminates chromatic signaling, relying solely on for visual processing. This condition arises from disrupting multiple cone opsins or their signaling pathways, leading to functional equivalence with vision. Achromatopsia, synonymous with rod monochromacy or complete color blindness, specifically denotes non-functionality of all photoreceptors, forcing dependence on rod cells for scotopic and under constrained conditions. Affected individuals exhibit total absence of color perception, perceiving the world in varying intensities of black, white, and gray. Symptoms include severely reduced , often 20/200 or worse, due to the absence of foveal contributions; involuntary ; and extreme from rod saturation in bright light. These manifestations stem causally from cone degeneration or dysfunction, impairing high-acuity tasks and daylight adaptation. The primary genetic basis for achromatopsia involves autosomal recessive , with mutations in genes such as CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H encoding cyclic nucleotide-gated channels or subunits essential for cone phototransduction. Each affected offspring of carrier parents has a 25% risk, reflecting Mendelian segregation. Prevalence estimates place achromatopsia at approximately 1 in 30,000 to 1 in 40,000 births worldwide, with higher rates in isolated populations due to founder effects. Cone monochromacy variants, such as , involve X-linked mutations in OPN1LW and OPN1MW genes, yielding residual short-wavelength sensitivity but still profoundly limited and similar acuity deficits. Distinguishing monochromacy from less severe deficiencies requires electrophysiological testing, revealing absent or anomalous cone responses via electroretinography, unlike the partial cone signals in dichromats. No effective treatments restore cone function, though tinted lenses mitigate photophobia by filtering wavelengths that overload rods. Long-term, affected individuals adapt via enhanced rod-mediated contrast detection in low light but face persistent challenges in color-dependent tasks, underscoring the causal primacy of cone loss in visual impoverishment.

Causes

Genetic Mechanisms

The majority of congenital deficiencies arise from mutations affecting the that encode photopigments in the cone photoreceptors of the . Red-green color blindness, the most prevalent form, follows an pattern due to the location of the relevant on the . in the OPN1LW , which codes for the long-wavelength-sensitive (LWS or red) , cause protan defects such as protanopia (complete absence of L-cone function) and protanomaly (reduced L-cone sensitivity). Similarly, alterations in the OPN1MW , encoding the medium-wavelength-sensitive (MWS or green) , result in deutan defects including deuteranopia and deuteranomaly. These defects often stem from rearrangements, such as unequal recombination between the tandemly arrayed OPN1LW and OPN1MW , producing hybrid with shifted spectral sensitivities or non-functional proteins. Males are disproportionately affected by red-green deficiencies because they possess only chromosome; a single mutated leads to the , whereas females require mutations on both X chromosomes due to and dosage compensation. This inheritance explains the higher prevalence in males, with affected females typically being homozygous carriers or manifesting milder symptoms if heterozygous with unequal expression. Blue-yellow color vision defects, including tritanopia and tritanomaly, are rarer and inherited in an autosomal dominant manner via mutations in the OPN1SW gene on , which encodes the short-wavelength-sensitive (SWS or blue) . These mutations, such as specific substitutions, disrupt blue cone photopigment function, leading to reduced sensitivity in the short-wavelength spectrum without affecting red-green discrimination. Achromatopsia, a severe form of color blindness involving complete or near-complete loss of -mediated vision, is caused by autosomal recessive mutations primarily in the CNGA3 or CNGB3 genes, which encode cyclic nucleotide-gated channel subunits essential for phototransduction. Less commonly, mutations in GNAT2, PDE6C, PDE6H, or ATF6 contribute to the condition by impairing other aspects of signaling or development. Affected individuals inherit two mutated alleles, one from each parent, resulting in non-functional and reliance on rod-mediated vision, which is scotopic and achromatic.

Acquired and Non-Genetic Factors

Acquired color vision deficiency arises from damage or dysfunction in the , , or higher visual pathways due to non-genetic insults, distinguishing it from congenital forms by its potential onset at any age and variable progression. Unlike genetic defects, which are typically stable and axis-specific (e.g., red-green), acquired deficiencies often manifest as tritan-like (blue-yellow) impairments or generalized desaturation, reflecting post-retinal or toxic mechanisms. These can be reversible if the underlying cause is addressed early, but permanent loss occurs with irreversible cellular damage. Ocular and systemic diseases frequently underlie acquired defects by compromising cone function or optic nerve integrity. Glaucoma elevates intraocular pressure, damaging retinal ganglion cells and inducing color discrimination loss, often progressing asymmetrically. Macular degeneration erodes central cone populations, while diabetes mellitus contributes via retinopathy and vascular leakage affecting photoreceptors. Neurological conditions like multiple sclerosis, Parkinson's disease, and Alzheimer's disease impair visual processing through demyelination or neurodegeneration, with studies noting tritan defects in up to 50% of Parkinson's patients. Other systemic factors include leukemia, liver disease, sickle cell anemia, retinitis pigmentosa, and chronic alcoholism, which may cause diffuse retinal toxicity or ischemia. Trauma and vascular events directly disrupt visual structures, leading to acute or subacute deficiencies. or damaging the , , or occipital cortex can selectively abolish color perception, with outcomes depending on lesion location—e.g., ventral stream involvement yields . Metabolic and vascular diseases exacerbate this through chronic hypoperfusion or accumulation of toxic metabolites, as seen in uncontrolled or . Pharmacological and toxic exposures induce defects via direct retinal toxicity or interference with photopigment cycling. Ethambutol, used for , causes with predominant blue-yellow loss, potentially irreversible after prolonged dosing exceeding 15 mg/kg daily. (Viagra) and other phosphodiesterase-5 inhibitors trigger transient (yellow-tinted vision) at high doses, linked to retinal PDE inhibition, while produces green-tinted halos via from glycosides. Antimalarials like accumulate in the , causing bull's-eye maculopathy and tritan defects. Industrial chemicals such as , , and lead solvents demyelinate optic nerves or inhibit cone enzymes, with occupational exposure studies reporting dose-dependent deficits in solvent workers. Aging contributes through gradual cone photoreceptor attrition and lens yellowing, with color discrimination thresholds rising after age 60 and accelerating post-70, particularly for hues due to S-cone vulnerability. Acquired forms may mimic anomalous initially but can evolve to in severe cases, necessitating serial testing for monitoring.

Symptoms and Effects

Visual Confusions and Discrimination Challenges

Individuals with red-green deficiencies, the most prevalent form affecting approximately 8% of males and 0.5% of females of Northern European descent, primarily experience confusions along the red-green axis. In deuteranopia and deuteranomaly, greens appear shifted toward red, leading to difficulties distinguishing medium greens from reds, browns from dark greens, and certain yellows from oranges. Protanopia and protanomaly exacerbate these issues by desaturating and dimming reds, oranges, and yellows, causing them to blend with blacks, grays, or dark greens, as the long-wavelength-sensitive cones fail to contribute distinct signals. challenges manifest in reduced hue resolution, where subtle variations in saturation or within these spectral regions become indistinguishable, impacting tasks requiring fine color differentiation. Blue-yellow deficiencies, rarer and often congenital tritanopia or tritanomaly, involve confusions perpendicular to the red-green axis, particularly between and greens or yellows and violets. Affected individuals may mistake light for grays, dark purples for blacks, mid-greens for , and oranges for reds, due to impaired short-wavelength-sensitive function. These lead to broader deficits in the blue-yellow opponent channel, though overall color perception remains more intact compared to red-green types, with challenges most evident in low-contrast or desaturated environments. In , particularly rod monochromacy or complete , is absent, resulting in perception limited to differences in . This eliminates all hue discrimination, with the appearing achromatic; objects differing only in color are indistinguishable, relying solely on , texture, or brightness cues, which often proves insufficient for complex scenes. Discrimination is profoundly impaired across the entire spectrum, compounded by reduced acuity (typically 20/200 or worse) and .

Impacts on Daily Activities and Safety

Individuals with red-green color vision deficiency often encounter difficulties in tasks requiring hue differentiation, such as selecting matching clothing or distinguishing ripe from unripe fruits during food preparation. These challenges extend to interpreting color-coded maps, charts, and graphs in educational or navigational contexts, potentially slowing comprehension or leading to errors in activities like or sports. However, according to the National Eye Institute, most people with deficiency experience no significant interference in everyday activities due to adaptive strategies or the mild nature of the condition in the majority of cases. In occupational settings, color vision deficiency can limit access to certain professions involving precise color discrimination, such as , , or , where standards may exclude or restrict individuals to mitigate risks like misidentifying wires or signals. For instance, some countries impose driving license restrictions for severe deficiencies, though evidence indicates that most affected individuals with normal and fields can drive safely by relying on brightness cues rather than pure color. A study of motor vehicle accidents found that color-deficient drivers were involved in fewer incidents (10.7%) compared to controls (20%) over a five-year period, suggesting no elevated overall risk and possible compensatory behaviors. Safety concerns arise primarily in scenarios with color-dependent hazards, such as distinguishing traffic signals or operating machinery with color-coded controls, particularly for protan deficiencies where appears dimmer. Despite theoretical risks affecting about 8% of drivers with defective , empirical data shows adaptation mitigates dangers in daily driving, with no broad evidence of increased accident rates attributable to color vision alone. In industrial contexts like electrical work, unaddressed deficiencies could heighten accident potential from misreading indicators, underscoring the need for alternative signaling methods.

Potential Functional Advantages

Dichromats, particularly those with red-green color vision deficiencies, exhibit reduced susceptibility to chromatic interference in texture-based segregation tasks, enabling them to detect color-camouflaged objects more effectively than trichromats. In controlled experiments, dichromatic observers identified stimuli camouflaged solely by color matching—such as patterns designed to blend seamlessly for normal vision—by prioritizing and textural discontinuities over hue differences, which often disrupt trichromatic texture perception. This capability stems from the dichromatic visual system's heavier reliance on achromatic channels, bypassing the confounding effects of color similarity that hinder normal observers. Empirical tests have confirmed advantages in specific detection scenarios, including the discernment of subtle variations in military-grade shades that appear uniform to trichromats. A 2005 study by researchers at the demonstrated that protanopes and deuteranopes could differentiate these tones, potentially aiding in spotting concealed targets under naturalistic conditions. Similarly, in simulations of or predation tasks, dichromats showed faster learning rates in identifying hidden objects despite overall lower success rates compared to trichromats in color-rich environments. Color vision deficiencies may also confer enhanced scotopic sensitivity, with reduced cone-mediated inhibition of rod photoreceptors allowing superior performance in dim lighting. A 1997 investigation tested this hypothesis through psychophysical thresholds, finding that color-deficient individuals maintained higher acuity and contrast sensitivity under mesopic-to-scotopic transitions than controls, suggesting a mechanism where fewer active types diminish lateral suppression on the rod-dominated periphery. These traits could provide evolutionary persistence for color blindness alleles, as heterozygous carriers (often female) retain while homozygous males gain tactical edges in low-contrast or deceptive visual fields, such as detecting predators obscured by foliage or prey mimicking backgrounds. However, such benefits are context-specific and do not universally outperform normal vision in high-illumination or diverse-chromatic settings.

Diagnosis

Standard Clinical Tests

The , consisting of pseudoisochromatic plates with colored dots forming numbers or paths, serves as the primary screening tool for red-green deficiencies in clinical settings. Patients identify embedded figures under standard illumination, with typical administration involving 14 to 38 plates; failure on more than a few indicates deficiency. This test, introduced in 1917, exhibits high sensitivity (around 97%) and specificity (up to 100%) for detecting protan and deutan defects but misses most tritan deficiencies and does not quantify severity. The Hardy-Rand-Rittler (HRR) test expands on pseudoisochromatic methods by using geometric shapes rather than numerals, enabling detection of tritan defects and assessment of deficiency severity through screening, diagnostic, and near-normal plates. It includes plates for all major axes—red-green, blue-yellow, and total color blindness—and is particularly useful in and occupational screening where comprehensive evaluation is required. HRR plates provide qualitative and semi-quantitative results, outperforming Ishihara for non-red-green anomalies. Arrangement tests like the Farnsworth-Munsell 100 Hue test evaluate hue discrimination by requiring subjects to sequence 85-100 caps differing subtly in color under controlled lighting, revealing the axis and extent of confusion through error scores. A simplified variant, the Farnsworth D-15, uses 15 caps for quicker pass-fail outcomes on occupational aptitude. These tests quantify defects beyond binary screening, identifying mild anomalous . The anomaloscope remains the gold standard for precise of red-green deficiencies, employing the Rayleigh equation where patients match a spectral yellow to a red-green mixture by adjusting intensities. Matches outside normal ranges classify protanomaly, deuteranomaly, or , with the device also adaptable for tritan testing. It requires dark adaptation and trained administration but provides quantitative data on anomaly degree, supplementing plate tests in specialized clinics.

Genetic and Electrophysiological Methods

Genetic methods for diagnosing color vision deficiency focus on identifying mutations, hybrid gene formations, and copy number variations in the cone opsin genes, particularly the X-linked OPN1LW (long-wavelength sensitive, ) and OPN1MW (medium-wavelength sensitive, ) genes responsible for the majority of red-green defects. These defects often result from unequal recombination events producing hybrid genes with altered or from point mutations disrupting function, leading to protanomaly/protanopia or deuteranomaly/deuteranopia. MassARRAY-based assays enable high-throughput detection of , hybrid gene breakpoints, and single nucleotide polymorphisms across the opsin array, offering higher specificity than traditional psychophysical tests by confirming the genetic basis of anomalous or . Direct of exons can pinpoint rare missense mutations, such as those altering residues critical for stability or binding, which correlate with defect severity. For autosomal dominant tritan defects, sequencing targets mutations in the OPN1SW gene on , though these are rarer and typically involve loss-of-function variants. is particularly valuable in cases of inconclusive behavioral assessments, such as in infants or individuals with cognitive impairments, and for carrier detection in females via quantitative analysis of patterns or mosaic expression. Electrophysiological techniques provide objective, non-behavioral measures of retinal and cortical function, bypassing reliance on patient cooperation. (ERG), including full-field and multifocal variants, records electrical potentials from photoreceptors in response to monochromatic or chromatic flicker stimuli, revealing reduced amplitudes or delayed implicit times in deficient subtypes; for instance, protans show diminished long-wavelength responses under stimuli. The early receptor potential component of ERG can detect subclinical carrier states in heterozygous females by assessing photopigment bleaching kinetics. Visual evoked potentials (VEP), elicited by pattern-onset or chromatic reversal stimuli (e.g., -green isoluminant gratings), quantify cortical processing delays or amplitude reductions specific to color-opponent pathways, with applications in pediatric where steady-state VEP distinguishes -green anomalies via phase-shift analysis. Combined ERG-VEP protocols localize dysfunction to pre- or post- sites, aiding differentiation from acquired defects like . These methods, while less routine than plate tests due to equipment demands, enhance diagnostic precision in atypical or progressive cases, such as dystrophies mimicking congenital deficiency.

Management and Treatment

Optical Aids and Assistive Technologies

Specialized optical aids such as and contact lenses aim to mitigate color confusion by selectively filtering light wavelengths that overlap in the cone responses of affected individuals, particularly those with red-green deficiencies. EnChroma utilize notched dichroic lenses to block spectral regions causing red-green overlap, purportedly expanding perceivable color range and enhancing contrast for mild to moderate cases. However, controlled studies demonstrate limited efficacy: wearers experience altered hue perception but fail to discern novel colors or pass standard diagnostic tests like Ishihara plates, with no improvement in severe protanopia or deuteranopia. Contact lenses offer similar filtration via customized tints; the ColorCorrection System employs precision-tinted soft lenses tailored to individual spectral sensitivities, enabling some users to pass Ishihara screening and distinguish traffic signals or charts indoors and outdoors. ChromaGen lenses, FDA-cleared as a for color vision deficiencies, use wavelength-specific filters to boost discrimination, with reported benefits in tasks like reading color-coded maps. X-Chrom lenses, evaluated for applications, similarly aid pseudoisochromatic plate identification but do not restore full . These devices provide situational enhancement rather than correction, with success rates varying by deficiency type—higher for deuteranomaly than protanomaly—and user adaptation. Assistive technologies complement optics through digital tools that identify, simulate, or remap colors without altering visual input. Software like Color Oracle simulates deficient vision on displays to aid designers in creating accessible graphics, while Color Blind Assistant instantaneously names colors at the screen cursor for real-time identification. Visolve adjusts saturation and contrast to heighten distinctions for educational or professional use, such as interpreting diagrams. applications leverage camera-based detection to vocalize or label colors in environments, supporting tasks like selection or produce sorting, though accuracy depends on lighting and . Platform-specific features, including Microsoft's high-contrast modes and color filters, further enable customization in operating systems. Overall, these non-invasive aids prioritize practical utility over physiological restoration, with empirical validation showing improved task performance in controlled settings but no universal applicability across all color blindness variants.

Emerging Therapeutic Approaches

Gene therapy represents a primary emerging approach for treating congenital color vision deficiencies, particularly those involving absent or dysfunctional cone photoreceptors, such as achromatopsia. This method uses adeno-associated viral (AAV) vectors to deliver functional copies of mutated opsin genes directly to retinal cone cells, aiming to restore pigment expression and color discrimination. In preclinical studies, gene therapy successfully enabled trichromatic vision in color-blind adult squirrel monkeys by introducing human long-wavelength opsin genes into their retinas, demonstrating stable color vision improvements lasting over two years post-injection. For achromatopsia, Phase 1/2 clinical trials, such as NCT02935517 evaluating AGTC-402 (now under Beacon Therapeutics), have assessed subretinal delivery of CNGA3 or CNGB3 genes, reporting safety and modest gains in cone function via electroretinography, though full color vision restoration remains elusive due to incomplete transduction efficiency and potential immune responses. A 2022 study led by University College London treated two children with CNGA3-related achromatopsia, achieving partial cone photoreceptor recovery and improved light sensitivity after unilateral subretinal injection, but bilateral application risks and long-term efficacy require further validation. For protan and deutan deficiencies—the most common red-green forms—gene therapy faces greater hurdles, as affected individuals possess anomalous but functional opsins, necessitating precise tuning to avoid spectral overlap or toxicity rather than simple replacement. Researchers at the have advanced non-viral delivery systems to target L-cone selectively, restoring dichromatic vision in models without off-target effects, potentially bypassing AAV limitations like limited size and . Human trials for red-green color blindness lag behind efforts, with no approved therapies as of 2025, though ongoing preclinical work emphasizes foveal-specific delivery to maximize central vision benefits. Critics note that while models predict human applicability, translation risks include variable cone mosaics and age-related plasticity declines, underscoring the need for causal validation beyond surrogate endpoints like responses. Photobiomodulation (PBM) therapy, involving low-level red and near-infrared exposure to stimulate mitochondrial function in retinal cells, has emerged as a non-invasive alternative in early human studies. A 2024 of 40 participants with congenital red-green deficiency applied 670 nm and 810 nm wavelengths for 3 minutes daily over 4 weeks, yielding statistically significant improvements in Ishihara plate scores (from 8.2 to 12.4 correct plates, p<0.01) and Farnsworth-Munsell 100-hue error reductions, attributed to enhanced photoreceptor rather than genetic alteration. However, the mechanism lacks direct causal evidence for upregulation, and effects were transient, diminishing 3 months post-treatment, suggesting PBM as an adjunct rather than curative. Optogenetic approaches, while transformative for advanced retinal degenerations like , offer limited applicability to inherited color blindness, as they introduce microbial opsins to surviving or bipolar cells for basic detection, not hue-specific . A case restored rudimentary vision in a blind via AAV2.7mV-opsin injection, enabling under intense illumination, but color encoding remains unaddressed, confining utility to endpoints rather than anomalous . Pharmacological interventions remain absent for genetic forms, with research confined to reversing acquired deficiencies via cessation of causative agents like ethambutol or . Overall, these therapies highlight causal targeting of photoreceptor but emphasize the empirical gap between animal proofs-of-concept and scalable human outcomes, with regulatory approval distant pending larger trials.

Epidemiology

Prevalence and Demographic Patterns

Color vision deficiency, commonly known as color blindness, has a global prevalence of approximately 8% in males and 0.5% in females, primarily due to congenital red-green defects. This equates to an estimated 300 million individuals affected worldwide. The condition is predominantly inherited in an X-linked recessive manner, with the relevant genes located on the X chromosome, leading to expression in males—who possess only one X chromosome—upon inheriting a single defective allele, whereas females require two defective alleles for manifestation. Demographic patterns reveal a stark sex-based asymmetry: among populations of Northern European ancestry, red-green color vision deficiency occurs in about 1 in 12 males (8.3%) and 1 in 200 females (0.5%). Large-scale surveys confirm similar ratios globally, with male prevalence ranging from 5% to 8% and female rates consistently below 1%, reflecting the genetic mechanism rather than environmental factors. Congenital forms remain stable throughout life, with no significant variation by age in prevalence data, as the deficiency is present from birth and does not typically progress. Blue-yellow and complete are rarer, affecting less than 1% of the population overall and showing minimal , thus lacking the pronounced male predominance seen in red-green types. Empirical studies, including genetic screening and anomaloscopy, underscore that these patterns hold across diverse cohorts, with over-citation of male cases in due to higher incidence rather than ascertainment bias.

Geographic and Ethnic Variations

Prevalence of red-green deficiency, the most common form, exhibits notable variations across ethnic groups and geographic regions, largely attributable to differences in the frequency of X-linked genetic alleles on the OPN1LW and OPN1MW genes. Populations of Northern European Caucasian descent consistently show the highest rates, with approximately 8% of males and 0.4% of females affected, based on large-scale surveys using standardized tests like Ishihara plates. These figures align with earlier data from U.S. studies of European-origin males, reporting rates around 8.2%. In contrast, rates are lower among Asian populations, with studies indicating about 3% prevalence in boys of Asian descent compared to 6% in Caucasian boys. and African American populations also demonstrate reduced frequencies, at roughly 3% and 1.4% respectively in male youth cohorts. Within , variations exist by ethnic subgroup; for instance, among Nigerian university students, the Yoruba ethnic group showed a 3.57% overall prevalence, higher than in Hausa (2.08%) or Igbo (1.92%) groups, though still below European levels. In the and , rates among males range from 8.7% in Eastern Indian samples to around 10% in some populations, though these figures derive from smaller or less standardized surveys and warrant caution due to methodological differences. Geographic patterns correlate with migration histories and , with elevated prevalence in and regions of European settlement, declining southward and eastward. Blue-yellow deficiencies, rarer overall, show less ethnic variation but may appear sporadically in isolated populations without clear geographic clustering. These disparities underscore the role of founder effects and selection in distribution, rather than environmental factors, as congenital forms predominate globally.

Evolutionary Perspectives

Selective Pressures and Hypotheses

Red-green color vision deficiency, the most common form affecting approximately 8% of males in European-descended populations, persists at stable frequencies despite its X-linked inheritance, suggesting weak or context-dependent negative selection rather than complete elimination by purifying pressures. This polymorphism, arising from hybrid gene arrays on the , likely originated after the evolution of in , with molecular evidence indicating adaptive divergence in color genes across . Hypotheses for its maintenance invoke a balance between costs—such as impaired detection of ripe fruits or social signals—and potential benefits in ancestral and predation contexts, where full may not always confer superiority. A primary hypothesis centers on neutral or relaxed selection, positing that mild impairments in color discrimination impose negligible fitness costs in pre-modern environments dominated by luminance-based cues over hue, allowing mutation-drift equilibrium to sustain alleles without strong countervailing pressure. X-linkage amplifies this, as hemizygous males express the trait at higher rates (females require homozygosity), yet remains largely unaffected, evidenced by consistent global prevalence absent bottlenecks or founder effects in most populations. Balancing selection hypotheses emphasize dichromatic advantages in breaking and shaded , where reduced color sensitivity enhances detection of textural discontinuities or motion against dappled backgrounds, aiding hunters in spotting concealed prey or predators. Experimental data show color-deficient individuals outperform trichromats in identifying color-camouflaged targets embedded in natural scenes, attributing this to prioritized achromatic processing that pierces hue-based disruptions. analogs support this: dichromatic marmosets ( geoffroyi) excel over trichromats in extracting from shaded substrates, where gradients dominate over contrasts, implying parallel benefits for human ancestors in forested or low-light habitats. Such niche utility may offset trichromatic prowess in sunlit fruit detection, fostering polymorphism via . Heterozygote advantage in female carriers represents another proposed mechanism, potentially via subtle enhancements in motion detection or broader spectral tuning, though empirical support remains indirect and contested, with no conclusive fitness metrics in humans. Overall, these hypotheses underscore trade-offs in visual , where dichromacy's persistence reflects adaptive polymorphism rather than vestigial defect, shaped by variable environmental demands across Pleistocene niches. Empirical tests, including simulations and cross-species comparisons, continue to refine these models, revealing no singular driver but a mosaic of selective forces.

Comparative Biology in Primates and Humans

Old World primates, including humans, exhibit routine based on three classes of photoreceptors sensitive to short (S), medium (), and long () wavelengths, resulting from a duplication of the LWS on the that separated M and L production. This genetic arrangement ensures trichromatic vision in all individuals, enabling discrimination along red-green and blue-yellow axes, which contrasts with the dichromatic vision predominant in most other mammals that rely solely on S and M/L without spectral separation. In (platyrrhines), is polymorphic due to a single X-linked locus encoding variable M/L opsins with allelic polymorphism, leading to routine in males and homozygous females while heterozygous females achieve through allelic differentiation mimicking . Approximately 40-60% of females in species like squirrel monkeys (Saimiri sciureus) are trichromatic, depending on frequencies, whereas all males remain dichromatic, functionally analogous to the protanopic or deuteranopic states in human color blindness where L or M function is absent or shifted. Human red-green color blindness, affecting about 8% of males and 0.4% of females globally, arises from X-linked mutations or hybrid gene deletions in the opsin array, reverting vision to a dichromatic state similar to that of New World primate males or ancestral mammalian vision, with loss of red-green discrimination but preserved luminance and blue-yellow sensitivity. This defect does not confer the polymorphic advantage seen in New World females for tasks like fruit detection against foliage, as human trichromacy is monomorphic and evolutionarily stabilized, with dichromacy likely maintained at low prevalence due to minimal selective pressure in modern environments despite potential foraging disadvantages in primates. Electrophysiological studies confirm that dichromatic primates, including color-blind humans, excel in motion detection and achromatic contrast but underperform in hue-based tasks compared to trichromats, highlighting a trade-off in visual processing conserved across lineages.

History

Early Observations and Scientific Foundations

The earliest scientific documentation of color blindness emerged from the personal observations of English chemist and physicist John Dalton, who in 1794 presented a paper to the Manchester Literary and Philosophical Society titled "Extraordinary Facts Relating to the Vision of Colours." Dalton described his lifelong difficulty distinguishing certain hues, such as confusing scarlet with green and pink with blue, which he attributed to an inherent property of his ocular fluid rather than the eye's structure itself. This account marked the first systematic inquiry into the condition, previously noted only anecdotally in non-scientific contexts, and established it as a heritable trait, as Dalton observed similar deficits in his brother and other family members. Dalton's work laid initial groundwork for recognizing color blindness—later termed Daltonism in his honor—as a distinct perceptual anomaly rather than a universal failing or moral defect, challenging prevailing assumptions about as uniform across individuals. Subsequent analyses, including DNA extraction from Dalton's preserved eye in 1994, confirmed he suffered from deuteranopia, a red- deficiency caused by the absence of functional medium-wavelength-sensitive () opsin pigments in retinal cells. This genetic validation underscored the condition's basis in photoreceptor dysfunction, though early 19th-century understanding remained empirical, focusing on behavioral tests like matching colored threads or fabrics rather than cellular mechanisms. Scientific foundations advanced modestly in the decades following, with observations linking the deficiency primarily to defects in long- (red) and medium-wavelength s, which mediate red-green under photopic conditions. These early efforts emphasized patterns suggestive of X-linked recessive transmission, as Dalton's familial cases disproportionately affected males, aligning with later chromosomal mapping to the locus. Empirical testing protocols, such as anomaloscopes introduced in the mid-19th century, quantified spectral confusion lines, providing quantitative evidence that affected individuals rely more heavily on cues than chromatic ones for differentiation. This shift from qualitative reports to measurable discrepancies formed the causal basis for viewing color blindness as a quantifiable reduction in diversity, rooted in genetic polymorphisms rather than environmental or acquired factors in congenital cases.

Twentieth-Century Advances and Modern Research

In 1917, Japanese ophthalmologist developed pseudoisochromatic plates designed to screen for red-green deficiencies, using dotted patterns that reveal numbers or shapes discernible to those with normal vision but obscured or altered for the color deficient; this test rapidly became the standard for mass screening due to its simplicity and reliability in detecting protan and deutan defects. In the mid-20th century, the Hardy-Rand-Rittler (HRR) plates, introduced around 1957, advanced diagnostic precision by incorporating tritan detection and providing qualitative classification of deficiency severity through polaroid-based figures that reduced memorization errors common in earlier tests. These tools enabled large-scale epidemiological surveys, such as a 1950s study of over 10,000 U.S. schoolchildren that quantified red-green deficiencies at approximately 8% in males and 0.5% in females using both Ishihara and HRR methods. Mid-century research solidified the genetic basis of inherited color vision deficiencies, confirming for red-green types via pedigree analyses and early linkage studies, while distinguishing congenital from acquired forms through histological examinations of cone photoreceptors. By the late , anomaloscopes—devices matching spectral lights to quantify discrimination thresholds—refined subtyping, revealing hybrid states where individuals possess anomalous but functional pigments, as evidenced in studies correlating psychophysical data with . Contemporary has identified specific gene mutations on the —OPN1LW for long-wavelength (red) and OPN1MW for medium-wavelength (green) cones—cloned in the and , enabling direct genetic that outperforms traditional plates in pinpointing hybrid or rare variants, with tests now recommended as a clinical standard for precise subtyping. Advanced via fundus cameras visualizes individual cone mosaics , quantifying absent or malformed cones in deficient retinas and correlating density losses (e.g., 20-30% reduction in L/M cone ratio for deuteranomaly) with perceptual deficits. Emerging therapies target severe forms like and through (AAV)-mediated , delivering functional genes to cone precursors; phase I/II trials since 2018 have shown modest gains in color discrimination and (e.g., one-step improvement on Farnsworth-Munsell tests) in treated eyes, though without full restoration due to incomplete transduction and off-target effects. For common red-green deficiencies, no curative interventions exist, but research explores optogenetic approaches and pharmacological enhancers of residual pigments, with preclinical models demonstrating partial axis shifts in discrimination loci. Claims of photobiomodulation efficacy remain unverified for congenital cases, as randomized trials show inconsistent, placebo-comparable improvements potentially attributable to training effects rather than physiological restoration.

Occupational Restrictions and Safety Considerations

Certain occupations impose restrictions on individuals with color vision deficiency due to the necessity of accurate color discrimination for operational safety, particularly in environments involving color-coded signals, wiring, chemicals, or visual indicators. For instance, authorities mandate color vision testing to mitigate risks such as misidentifying runway lights or instrument panels, where errors could lead to catastrophic accidents. In the United States, the (FAA) requires pilots to demonstrate satisfactory color perception via approved tests, including computerized assessments like the Colour Assessment & Diagnosis (CAD) or Cone Test, effective for new applicants as of January 1, 2025; failure results in limitations on medical certification, such as restrictions to daytime only. Similarly, military branches enforce stringent color vision standards, using tests like the Contrast Cone Test alongside pseudoisochromatic plates, disqualifying those unable to distinguish red, green, and blue hues critical for aircraft identification and tactical signaling. In rail and maritime operations, color blindness restricts roles like drivers or signal operators, as inability to differentiate signal lights (e.g., stop versus proceed) poses direct safety hazards to passengers and crew. Emergency services, including firefighting and , often exclude or limit color-deficient applicants due to reliance on color-coded maps, hoses, or vehicle markings for rapid response; for example, firefighters must identify hydrant colors or foam types under stress. Electrical and hazardous materials handling present analogous risks, where misreading wire insulation colors or chemical labels could cause , explosions, or spills, though the (OSHA) imposes no federal color vision mandate, leaving determinations to employers based on task-specific assessments. Healthcare professions, such as , , and work, incorporate requirements to ensure safe handling of color-differentiated medications, tissues, or stained slides, with errors potentially leading to misdiagnosis or dosing mistakes. While accommodations like labeled alternatives or assistive lenses may suffice in non-safety-critical roles, professions prioritizing public safety preclude them when reliable color perception is non-negotiable, reflecting that deuteranomaly—the most common form—affects of red-green contrasts essential for these tasks. Surveys indicate that 75% of color-deficient workers experience workplace delays or errors from color reliance, underscoring the causal link between deficiency and heightened accident risk in unadapted environments.

Disability Status and Accommodation Debates

Color vision deficiency (CVD), commonly known as color blindness, is not uniformly classified as a across legal frameworks, with determinations often depending on whether the condition substantially limits major life activities. In the United States, under the Americans with Disabilities Act (ADA), CVD typically does not qualify as a disability because it seldom prevents individuals from performing essential job functions or daily tasks, as most affected people can distinguish sufficient colors for general purposes. However, in specific contexts—such as roles requiring precise color differentiation, like electrical work or —severe forms may be deemed disabling if they impose significant barriers, prompting case-by-case evaluations by the Equal Employment Opportunity Commission (EEOC). In the , the provides for CVD to be recognized as a when it has a substantial and long-term adverse effect on normal day-to-day activities, as affirmed by the Government Equalities Office, though societal perception often views it as a minor variation rather than an impairment. Internationally, classifications vary; for instance, many countries impose occupational restrictions for professions like piloting or without formal status, prioritizing safety over accommodation mandates. Critics of broad labeling argue that CVD's X-linked and (affecting approximately 8% of males globally) represent a natural genetic polymorphism rather than a pathological deficit, with showing affected individuals adapt via contextual cues like brightness and shape, minimizing real-world limitations. Debates on accommodations center on balancing safety imperatives against overreach, with proponents advocating for CVD-friendly designs—such as pattern-based signals or high-contrast palettes—in public infrastructure and digital interfaces to mitigate risks like misreading traffic lights or visualizations. The Job Accommodation Network recommends workplace adjustments like labeled tools or software filters, which can enhance without special equipment, though these are rarely mandated due to CVD's spectrum nature, where mild cases impose negligible burdens. Opponents contend that mandatory accommodations, such as in hiring for color-critical roles, could compromise operational safety, as evidenced by standards excluding dichromats, and that principles (e.g., avoiding sole reliance on color coding) benefit broader populations without stigmatizing CVD as inherently disabling. Empirical studies underscore that while severe (rare, <0.005% ) warrants stronger support, common red-green deficiencies rarely correlate with overall functional impairment, fueling arguments against expansive legal protections that might inflate administrative costs without proportional gains.

References

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