Eye color

Eye color is a polygenic phenotypic character and is determined by the amount and type of pigments in the eye's iris.^[1][2]

Eye color map. Dark eye color determined as variants of the brown eyes, light eye color determined as variants of the blue, green and gray eyes.^{[citation needed]}

Humans and animals have many phenotypic variations in eye color, as blue, brown, green and others. These variations constitute phenotypic traits.^[3]

The genetics of eye color are complicated and eye color is determined by multiple genes. Some of the eye color genes include EYCL1 (a green/blue eye color gene located on chromosome 19), EYCL2 (a brown eye color gene) and EYCL3 (a brown/blue eye color gene located on chromosome 15). The once-held view that blue eye color is a simple recessive trait has been shown to be wrong. The genetics of eye color are so complex that almost any parent-child combination of eye colors can occur.^[4][5]

In human eyes, these variations in color are attributed to varying ratios of eumelanin produced by melanocytes in the iris.^[2] The brightly colored eyes of many bird species are largely determined by other pigments, such as pteridines, purines, and carotenoids.^[6]

Three main elements within the iris contribute to its color: the melanin content of the iris pigment epithelium, the melanin content within the iris stroma, and the cellular density of the iris stroma.^[7] In eyes of all colors, the iris pigment epithelium contains the black pigment, eumelanin.^[2][7] Color variations among different irises are typically attributed to the melanin content within the iris stroma.^[7] The density of cells within the stroma affects how much light is absorbed by the underlying pigment epithelium.^[7] OCA2 gene polymorphism, close to proximal 5′ regulatory region, explains most human eye-color variation.^[8]

Genetic determination of eye color

Eye colors can range from the most common color, brown, to the least common, green. Rare genetic mutations can even lead to unusual eye colors: black, red, or the appearance of violet. Eye color is an inherited trait influenced by more than one gene.^[9][10] These genes are being sought using associations to small changes in the genes themselves and in neighboring genes. These changes are known as single nucleotide polymorphisms or SNPs. The actual number of genes that contribute to eye color is currently unknown, but there are a few likely candidates. A study in 2009 found that it was possible to predict the color of eyes in Rotterdam with more than 90% accuracy for brown and blue, using just six SNPs (from six genes). ^[11]

The gene OCA2 (OMIM: 203200), when in a variant form the gene causes the pink eye color and hypopigmentation common in human albinism. (The name of the gene is derived from the disorder it causes, oculocutaneous albinism type II.) Different SNPs within OCA2 are strongly associated with blue and green eyes as well as variations in freckling, mole counts, hair and skin tone. The polymorphisms may be in an OCA2 regulatory sequence, where they may influence the expression of the gene product, which in turn affects pigmentation.^[8] A specific mutation within the HERC2 gene, a gene that regulates OCA2 expression, is partly responsible for blue eyes.^[12] Other genes implicated in eye color variation are: SLC24A4 ^[13] and TYR.^[13]

Blue eyes with a brown spot, green eyes and gray eyes are caused by an entirely different part of the genome. As Eiberg said: "The SNP rs12913832 [of the Herc2 gene] is found to be associated with the brown and blue eye color, but this single DNA variation cannot explain all the brown eye color variation from dark brown over hazel to blue eyes with brown spots."

Classification of colors

The perception of color depends upon various factors. These are the same eyes; however, depending on the light and surrounding hues, the eye color can appear quite different.

Iris color can provide a large amount of information about an individual and a classification of various colors may be useful in documenting pathological changes or determining how a person may respond to various ocular pharmaceuticals.^[14] Various classification systems have ranged from a basic light or dark description to detailed gradings employing photographic standards for comparison.^[14] Others have attempted to set objective standards of color comparison.^[15]

As the perception of color is dependent on viewing conditions (e.g., the amount and type of illumination, as well as the hue of the surrounding environment), so is the perception of eye color.^[16]

Eye color exists on a continuum from the darkest shades of brown to the lightest shades of blue.^[9] Seeing the need for a standardized classification system that was simple, yet detailed enough for research purposes, Seddon et al. developed a graded one based on the predominant iris color and the amount of brown or yellow pigment present.^[17] There are 3 true colors in the eyes that determine the outward appearance; brown, yellow, and blue. How much of each color one has determines the appearance of the eye color. The color of the eyes in turn depends on how much of these colors are present. For example, green eyes have blue and some yellow, making them appear green. Brown eyes appear brown because most of the eye contains the brown color. The above is true only for Homo sapiens; iris color varies greatly in the rest of the animal world. For example, instead of blue in humans, autosomal recessive color in the skink Corucia zebrata is black, whereas the autosomal dominant color is yellow-green.^[18]

Changes in eye color throughout life

In European populations, children are most commonly born with unpigmented (blue) eyes. As the child develops, melanocytes, cells found within the iris of human eyes (as well as skin and hair follicles) slowly begin to produce melanin. Because melanocyte cells continually produce pigment, eye color, in theory, can be changed.

Changes (lightening or darkening) of eye colors during puberty, early childhood, pregnancy, and sometimes after serious trauma (like heterochromia), do represent cause for plausible argument to state that some eyes can or do change, based on chemical reactions and hormonal changes within the body. Most eye changes happen when the newborn baby is around one year old, although it can happen up to 3 years of age.^[19]

Studies on Caucasian twins, both fraternal and identical, have shown that eye color over time can be subject to change, and major demelanization of the iris may also be genetically determined. Most eye color changes have been observed or reported as Caucasians with hazel eyes.^[20]

Eye color chart (Martin-Schultz scale)

Carleton Coon created this chart by the Martin-Schultz scale often used in physical anthropology.

1. Light eyes

   Eyes light and light mixed are 16-12 in Martin scale.

   Light

   Grey, blue, green.

   Light-mixed

   1. Very light-mixed (blue with grey or green or green with grey)
   2. Light-mixed (light or very light-mixed with small admixture of brown pigment)
2. Mixed eyes

   Mixed

   12-6 in Martin scale. Mixture of light eyes (blue, grey or green) with brown pigment when light and brown pigment are the same level. Some of mixed eyes are accept to light-pigment eyes.

3. Dark eyes

   Dark-mixed

   Hazel. 6-4 in Martin scale. Brown with small admixture of light pigment.

   Dark

   4-1 in Martin scale. Brown (light brown and dark brown) and very dark brown (almost black).

Blue

A blue iris

Blue eyes contain low amounts of melanin within the iris stroma; longer wavelengths of light tend to be absorbed by the underlying iris pigment epithelium, and shorter wavelengths are reflected and undergo Rayleigh scattering.^[7] The type of melanin present is eumelanin.^[21] The inheritance pattern followed by blue eyes is considered similar to that of a recessive trait, however it's a polygenic trait (meaning that it's controlled by the interactions of several genes, not just one).^[10] Eiberg and colleagues showed in a study published in Human Genetics that a mutation in the 86th intron of the HERC2 gene, which is hypothesized to interact with the OCA2 gene promoter, reduced expression of OCA2 with subsequent reduction in melanin production.^[22] The authors concluded that the mutation may have arisen in a single individual in the Near East or around the Black Sea region 6,000-10,000 years ago during the neolithic revolution,^[23][24] perhaps suggesting that all people with pure blue eyes are more closely related. However, blue eyes with brown spots around the pupil are not related to this mutation.

Blue eyes are most common in Northern and Central Europe and to a lesser degree in Southern Europe and also North America; Though they can also be found in Central Asia such as Afghanistan. ^[25] they're also found in parts of North Africa,^[26] West Asia, and South Asia, in particular the northern areas. However blue eyes are not found within the population of East Asia, due to the major pre-dominance of the brown eye gene in the area.

A 2002 study found the prevalence of blue eye color among Caucasians in the United States to be 33.8 percent for those born from 1936 through 1951 compared with 57.4 percent for those born from 1899 through 1905.^[10] Blue eyes have become increasingly rare among American children with only 1 out of every 6 – 16.6 percent which is 49.8 million out of 300 million (22.4% of white Americans) of the total United States population having blue eyes.^[27][28] The plunge in the past few decades has taken place at a remarkable rate. A century ago, 80 percent of people married within their ethnic group. Blue eyes, a genetically recessive trait, were routinely passed down, especially among people of Scottish, English, Irish, Western and Northern Slavic, and Northern European ancestry.^[27][28][29] In the 1930s, eugenicists used the disappearance of blue eyes as a rallying cry to support immigration restrictions. They went so far as to map the parts of the country with the highest and lowest percentage of blue-eyed people.

The outer surface of the iris of a blue eyed person is actually clear, lacking the outer layer of pigmentation that is found in brown eyes. Their color is caused by the inner layer of pigmentation and the semi-opaque fibrous tissues which lay between the two layers.^[30]

Brown

Dark Brown human iris

Brown eyes are predominant in humans^[31] and, in many parts of the world it is nearly the only iris color present.^[32] It is less common in countries around the Baltic Sea and in Scandinavia. Dark pigment of brown eyes are most common and with a few exceptions the only color among the population of East Asia. In humans brown eyes contain large amounts of melanin within the iris stroma, which serves to absorb light at both shorter and longer wavelengths. Brown eyes are the most common eye color, with over half of the world's population having them .

Amber

Human amber eyes displaying the yellow pigments.

Amber human iris

Amber eyes are of a solid color and have a strong yellowish/golden and russet/coppery tint. This might be due to the deposition of the yellow pigment called lipochrome in the iris (which is also found in green and violet eyes).^[33][34] Amber eyes should not be confused with hazel eyes; although hazel eyes may contain specks of amber or gold, they usually tend to comprise many other colors, including green, brown and orange. Also, hazel eyes may appear to shift in color and consist of flecks and ripples; while amber eyes are of a solid gold hue.

The eyes of some pigeons contain yellow fluorescing pigments known as pteridines.^[35] The bright yellow eyes of the Great Horned Owl are thought to be due to the presence of the pteridine pigment xanthopterin within certain chromatophores (called xanthophores) located in the iris stroma.^[36] In humans, yellowish specks or patches are thought to be due to the pigment lipofuscin, also known as lipochrome.^[37]

Gray

A steel blue-gray eye

Gray eye under magnification, exhibiting small amounts of yellow.

Gray eyes have less melanin than blue eyes,^{[citation needed]} even though they are considered a darker shade of blue (like blue-green). Gray eyes are most common in European Russia, Finland and the Baltic States.^{[citation needed]} Under magnification, gray eyes exhibit small amounts of yellow and brown color in the iris. Ultimately there are at least two things that could determine gray eye color. The first is the amount of melanin made and the second is the density of the proteins in the stroma. ^[38]

A gray iris may indicate the presence of a uveitis. However, other visual signs make a uveitis obvious. Gray iris color, as well as blue, are at increased risk of uveal melanoma. ^[39]

Visually, gray eyes often tend to appear to change between the shades of blue, green and gray; this is because gray eyes are extremely light, as mentioned before. The color change for gray eyes is usually influenced by the lighting and the colors in the surroundings (such as clothes, makeup, etc.).

The Greek goddess Athena was said to have owl-gray or sea-gray eyes (in Greek, γλαυκῶπις – glaukōpis).^[40]

Green

A Green eye

Olive Green eyes

Green eyes are the product of low to moderate amounts of melanin and probably represent the interaction of multiple variants within the OCA2 and in other genes, including perhaps the red-hair gene.^[41] They are most common in Northern Europe and Central Europe ^[42][43]. A study of Icelandic and Dutch adults found that green eyes are much more prevalent in women than in men.^[44] Almost 92% of the population in Iceland has either green or blue eye color.^[45]

Among White Americans, green eyes are most common among those of Celtic and Germanic ancestry, about 16 percent ^[46] . It can also be found in parts of West Asia, South Asia, and North Africa. This eye color is the least common found among humans, with the exceptions of rare eye mutations, that can create black, red, and other eye colors.

Hazel

This eye shows a mixture of brown, green, and amber colors.

Hazel eyes are due to a combination of Rayleigh scattering and a more than moderate amount of melanin in the iris' anterior border layer.^[7][37] Hazel eyes often appear to shift in color from a light brown to a medium golden-dark green. A number of studies using three-point scales have assigned hazel to be the medium-color between the lightest shade of blue and darkest shade of brown. Hazel mostly consists of Brown and Green. The dominant color in the eye can either be green or brown.^{[47][48][49][50][51][52][53]} This can sometimes produce a multicolored iris, i.e., an eye that is light brown near the pupil and charcoal or amber/dark green on the outer part of the iris (and vice versa) when observed in sunlight. Hazel is commonly found in Europe, some regions of the Middle East, Americas, parts of Central Asia and parts of South Asia.

Definitions of the eye color hazel vary: it is sometimes considered to be synonymous with light-brown and gold.^{[47][49][52][54]} In North America, hazel is often used to describe eyes that appear to change color.

Red

The eyes of albinos may appear red under certain lighting conditions due to the extremely low quantities of melanin.^[55] True red eyes also exist in albinistic and even some non-albinistic populations, but are very rare.^{[citation needed]}

Violet

The appearance of violet eyes is thought to occur from the mixing of red and blue reflections.^[56] Some albinos have eyes that appear violet.^[57] Violet eyes are genetically similar to blue eyes (i.e., they are a reflection, pigment, or variant of blue).^{[citation needed]} Violet eyes are extremely rare; some people remain convinced that it is impossible to have violet colored eyes. However, violet eyes are commonly found in a few remote and high altitude areas of northern Kashmir and remote areas in Afghanistan.^{[citation needed]}

Elizabeth Taylor is occasionally described as having violet eyes. Adolf Hitler was described as having "vivid violet eyes" as well by those who where close to him.

Medical implications

Those with lighter iris color have been found to have a higher prevalence of age-related macular degeneration (ARMD) than those with darker iris color;^[51] lighter eye color is also associated with an increased risk of ARMD progression.^[58] An increased risk of uveal melanoma has been found in those with blue, green or gray iris color.^[39][45] Additionally, a recent^[when?] study suggests that people with dark brown eyes are at increased risk of developing cataracts, and therefore should protect their eyes from direct exposure to sunlight.^[59]

Eye color may also be symptomatic of disease. Aside from the iris, yellowing of the whites of the eyes is associated with jaundice and symptomatic of liver disease, including cirrhosis, hepatitis and malaria.

Anomalous conditions

Aniridia: Eyes wherein the irises are not present; the eyes appear to be two large pupils.

Aniridia

Aniridia is a congenital condition characterized by an extremely underdeveloped iris which appears absent on superficial examination.^[60]

Ocular albinism and eye color

Normally, there is a thick layer of melanin on the back of the iris. Even people with the lightest blue eyes, with no melanin on the front of the iris at all, have dark brown coloration on the back of it, to prevent light from scattering around inside the eye. In those with milder forms of albinism, the color of the irises is typically blue, but can vary from blue to brown. In severe forms of albinism, there is no pigment on the back of the iris, and light from inside the eye can pass through the iris to the front. In these cases, the only color seen is the red from the hemoglobin of the blood in the capillaries of the iris. Such albinos have pink eyes, as do albino rabbits, mice, or any other animal with total lack of melanin. Transillumination defects can almost always be observed during an eye examination due to lack of iridial pigmentation.^[61] The ocular albino also lacks normal amounts of melanin in the retina as well, which allows more light than normal to reflect off the retina and out of the eye. Because of this, the pupillary reflex is much brighter in the albino, and this can increase the red eye effect in photographs.

Heterochromia

An example of complete heterochromia. The subject has one brown and one hazel eye. The subject also appears to have a faint star pattern in the hazel iris.

An example of sectoral heterochromia. The subject has a blue iris with a brown section.

Heterochromia (also known as a heterochromia iridis or heterochromia iridium) is an ocular condition in which one iris is a different color from the other iris (complete heterochromia), or where the part of one iris is a different color from the remainder (partial heterochromia or sectoral heterochromia). It is a result of the relative excess or lack of pigment within an iris or part of an iris, which may be inherited or acquired by disease or injury.^[62] This uncommon condition usually results due to uneven melanin content. A number of causes are responsible, including genetics such as chimerism, Horners Syndrome and Waardenburg syndrome. A common cause in females with heterochromia is X-inactivation, which can result in a number of heterochromatic traits, such as calico cats. Trauma and certain medications, such as some prostaglandin analogues can also cause increased or decreased pigmentation in one eye. On occasion, the condition of having two different colored eyes is caused by blood staining the iris after sustaining injury.

Eye color change

Often, newborns have blue eyes, which change to green, hazel, light brown or dark brown. This is possibly the origin of the idiom being blue-eyed (i.e., naïve; gullible) or having baby blues, or striking blue eye color.

It's thought that exposure to light after birth triggers the production of melanin in the iris of the eye. By three years of age, the eyes produce and store enough melanin to indicate their natural shade. While changes in eye color of infants are more common, even in adults, eye color changes are seen, most often as a result of exposure to the sun. Sunlight triggers melanin production in the eye, as it does to the skin.

Eyedrops containing a prostaglandin analogue (such as latanoprost) may result in a permanently darkened iris; these eyedrops are commonly used to treat open-angle glaucoma.^[63] It's been seen in some cases where teenagers will change eye color from lighter colors to darker ones, whether that means from green to olive green or Grey to a dark Black.

Theories of Mate preference

One study has given a hypothesis that blue eyed men prefer blue eyed women due to the trait's recessive inheritance.^[64] Under this theory, because blue eyed couples are likely to produce blue eyed offspring, males are more confident in the child's paternity.

References

See also

• Iridology
• Hair color
• Human skin color
• Xanthophore
• List of Mendelian traits in humans

External links

Wikimedia Commons has media related to: eye colors

• Genetics of eye color
• Eye Color and Human Diseases
• Various links on human eye color