BIOLOGY PROJECT

NAME: R. SAI SUVEDHYA

TOPIC: COLOURATION OF
EYES
ROLL NO. : 09
 INTRODUCTION
Eye color or eye colour is a polygenic phenotypic character determined by two
distinct factors: thepigmentation of the eye's iris and the frequency-
dependence of the scattering of light by the turbidmedium in the stroma of
the iris. In humans, the pigmentation of the iris varies from light brown to
black, depending on the concentration of melanin in the iris pigment
epithelium (located on the back of the iris), the melanin content within the
iris stroma (located at the front of the iris), and the cellular density of the
stroma. The appearance of blue and green, as well as hazel eyes, results
from the Tyndall scattering of light in the stroma, a phenomenon similar to
that which accounts for the blueness of the sky called Rayleigh
scattering. Neither blue nor green pigments are ever present in the human
iris or ocular fluid. Eye color is thus an instance of structural color and varies
depending on the lighting conditions, especially for lighter-colored eyes.
The brightly colored eyes of many bird species result from the presence of
other pigments, such as pteridines, purines, and carotenoids. Humans and
other animals have manyphenotypic variations in eye color. The genetics of
eye color are complicated, and color is determined by multiple genes. So
far, as many as 15 genes have been associated with eye color inheritance.
 DETERMINATION OF EYE COLOUR
There are two main factors that help determine your eye color: the amount and pattern of dark
brown pigment (calledmelanin) in the part of your eye called the iris and the way in which
the iris scatters light that passes through the eye. The more important factor is pigment, which is
determined by your genes.Deep inside the nucleus of your body’s cells are 46 chromosomes, divided
into 23 pairs. When you were conceived, you inherited one chromosome from each parent to
make each pair of your chromosomes.Chromosomes are comprised of pieces of DNA called genes.
These genes, which also come in pairs, determine many of your characteristics you will develop.
Scientists believe that as many as 16 different genes could play a role in determining eye color. The
two main genes believed to be responsible are OCA2 and HERC2, both of which are part
of chromosome 15.Genes are, in turn, made up of alleles that ultimately determinewhether any
particular characteristic will appear. For each trait you can inherit, there are two alleles. If the two
alleles are the same, they are homozygous. If they are different, they are heterozygous. For each trait,
one allele (dominant) is expressed (the trait it represents appears), while the other allele(recessive) is
unexpressed (the trait it represents does not appear). Recessive alleles are only expressed if there is
nodominant allele present.For example, the alleles for eye color can be separated into blue, green,
and brown. Green alleles are dominant over blue alleles, and brown alleles are dominant over both
blue and green alleles. If you received a blue allele and a brown allele, your eye color would be brown
because brown is the dominantallele. If you have blue eyes, that means you received blue alleles
from both parents.Your genes also determine your eye color by dictating how much (and
where) melanin is produced in your iris. The moremelanin produced, the darker the eye color will be.
Becausemelanin production does not begin at birth, babies’ eyes appear blue. True eye color will be
determined over time. It’s usually not until age three that a child’s true permanent eye color reveals
itself.Have you ever noticed how some people’s eyes seem to changecolor depending upon the
lighting? That occurs because theiris has two layers. Sometimes there is pigment in both layers. In
people with blue or green eyes, however, the front layer will have very little or no melanin.
Depending upon the amount and diffraction of light, their eyes may appear to change colors.Some
people have two different eye colors. This results from a condition called heterochromia. It’s
very rare, but usuallyharmless. It occurs due to differences in the early stages of irisdevelopment.
 CHANGES IN EYE COLOUR
Most babies who have European ancestry have light-colored eyes
before the age of one. 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, in theory eye color can be changed. Most eye
changes happen when the infant is around one year old, although it can
happen up to three years of age.Observing the iris of an infant from the
side using only transmitted light with no reflection from the back of the
iris, it is possible to detect the presence or absence of low levels of
melanin. An iris that appears blue under this method of observation is
more likely to remain blue as the infant ages. An iris that appears
golden contains some melanin even at this early age and is likely to turn
green or brown as the infant ages.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.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 in the Caucasian population with hazel and
amber eyes.
 MARTIAN-SCHULTZ SCALE
The Martin–Schultz scale is a standard color scale commonly used in physical anthropology to establish
more or less precisely the eye color of an individual; it was created by the anthropologists Martin and
Schultz in the first half of the 20th century. The scale consists of 16 colors (from light blue to dark brown-
black) that correspond to the different eye colors observed in nature due to the amount of melanin in
the iris.

1-2 : blue iris (1a, 1b, 1c, 2a : light blue iris - 2b : darker blue iris)
3 : blue-gray iris
4 : gray iris
5 : blue-gray iris with yellow/brown spots
6 : gray-green iris with yellow/brown spots
7 : green iris
8 : green iris with yellow/brown spots
9-11 : light-brown iris
10 : hazel iris
12-13 : medium brown iris
14-15-16 : dark-brown and black iris
 CLASSIFICATION OF EYE COLOUR
Iris color can provide a large amount of information about a person, and a
classification of colors may be useful in documenting pathological changes or
determining how a person may respond to ocular pharmaceuticals.[ Classification
systems have ranged from a basic light or dark description to detailed gradings
employing photographic standards for comparison.Others have attempted to set
objective standards of color comparison.Eye colors range from the darkest shades
of brown to the lightest tints of blue. To meet the need for standardized
classification, at once simple yet detailed enough for research purposes, Seddon et
al. developed a graded system based on the predominant iris color and the
amount of brown or yellow pigment present. There are three pigment colors that
determine, depending on their proportion, the outward appearance of the iris,
along withstructural color. Green irises, for example, have blue and some yellow.
Brown irises contain mostly brown. Some eyes have a dark ring around the iris,
called a limbal ring.Eye color in non-human animals is regulated differently. For
example, instead of blue as in humans, autosomal recessive eye color in the skink
species Corucia zebrata is black, and the autosomal dominant color is yellow-
green.As the perception of color depends on viewing conditions (e.g., the amount
and kind of illumination, as well as the hue of the surrounding environment), so
does the perception of eye color.Based on this the our eyes are classified into
different colours:
 AMBER
Amber eye color, also known as wolf eyes are a rare human eye color which
according to Wikipedia, describes them to have a “solid color and …a strong
yellowish/golden and russet/coppery tint”. These types of eye colors are very
common in wolves, hence the name wolf eyes.Amber eye color is said to result
from the deposition of lipochrome (lipofuscin), a yellowish pigment on iris.
Lipochrome is also common in green eyes. Although many people confuse amber
eye color with hazel, they are different because, although hazel eyes do have the
gold and amber color specs, they also contain many other colors that include
brown, orange and green. Furthermore, hazel eyes have ripples and flecks that
appear to be shifting in color while amber eye colors have a solid golden hue. Most
people with amber eyes have predominantly gold eyes. However, it is common to
get people with amber eyes that are copper or russet colored. In fact, this makes
many people to confuse amber eyes for hazel, especially when they have some
light golden grey colors.
However, you will notice the dominance of yellow pigment in amber eye colored
people. Just like any other eye colors, amber eye colors are genetically
caused.However, amber eye colors are common in some animals such as domestic
cats, owl, fish, pigeon, canines, and eagles. The eyes of pigeons contain yellow
fluorescing pigments known as pteridines. 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.
 BLUE
There is no blue pigmentation either in the iris or in the ocular fluid. Dissection reveals that the iris pigment
epithelium is brownish black due to the presence of melanin. Unlike brown eyes, blue eyes have low
concentrations of melanin in the stroma of the iris, which lies in front of the dark epithelium. Longer wavelengths
of light tend to be absorbed by the dark underlying epithelium, while shorter wavelengths are reflected and
undergo Rayleigh scattering in the turbid medium of the stroma. This is the same frequency-dependence of
scattering that accounts for the blue appearance of the sky. The result is a "Tyndall blue" structural color that
varies with external lighting conditions. In humans, the inheritance pattern followed by blue eyes is considered
similar to that of a recessive trait (in general, eye color inheritance is considered a polygenic trait, meaning that it
is controlled by the interactions of several genes, not just one). In 2008, new research tracked down a single
genetic mutation that leads to blue eyes. "Originally, we all had brown eyes," said Eiberg. Eiberg and colleagues
suggested in a study published in Human Genetics that a mutation in the 86th intron of theHERC2 gene, which is
hypothesized to interact with theOCA2 gene promoter, reduced expression of OCA2 with subsequent reduction in
melanin production. The authors suggest that the mutation may have arisen in the northwestern part of the Black
Sea region, but add that it is "difficult to calculate the age of the mutation." Eiberg stated, "A genetic mutation
affecting the OCA2 gene in our chromosomes resulted in the creation of a 'switch,' which literally 'turned off' the
ability to produce brown eyes." He added:The genetic switch is located in the gene adjacent to OCA2 and rather
than completely turning off the gene, the switch limits its action, which reduces the production of melanin in the
iris. In effect, the turned-down switch diluted brown eyes to blue. If the OCA2 gene had been completely shut
down, our hair, eyes and skin would be melanin-less, a condition known as albinism. Blue eyes are rare in
mammals. While somecats and dogs have blue eyes, this is usually due to another mutation that is associated
with deafness. But in cats alone, there are four identified gene mutations that produce blue eyes, some of which
are associated with congenital neurological disorders. The mutation found in the Siamese cats is associated with
strabismus (crossed eyes). The mutation found in blue-eyed solid white cats (where the coat color is caused by the
gene for "epistatic white") is associated with deafness. However, there are phenotypically identical, but
genotypically different, blue-eyed white cats (where the coat color is caused by the gene for white spotting) where
the coat color is not strongly associated with deafness. In the blue-eyed Ojos Azulesbreed, there may be other
neurological defects. Blue-eyed non-white cats of unknown genotype also occur at random in the cat population.
 BROWN
Brown eyes appear brown due to the presence of a pigment
known as melanin, the same pigment that causes skin to
tan. Dark brown eyes have more melanin and lighter brown
eyes have less. This pigment can protect the body from some
types of cancers; research suggests that those with brown
eyes are less likely to have melanoma cancer. Without
melanin eye color would appear blue. Thousands of years ago
everyone had brown eyes. To this day this eye color is the
most common worldwide. Brown eyes are the only eye color
found in many parts of the world including much of Asia and
Africa. Brown eyes can vary quite a bit in intensity from dark
brown to light brown (also called honey eyes). The brown
eyed gene is dominant over the blue and green eyed genes.
This means that genetically brown eyes are much more
common since a person typically only needs one brown eyed
gene to have this eye color whereas a person would need
several blue eyed genes, and no brown eyed genes, to have
blue eyes.
 GREY
Like blue eyes, gray eyes have a dark epithelium at the back of
the iris and a relatively clear stroma at the front. One possible
explanation for the difference in the appearance of gray and
blue eyes is that gray eyes have larger deposits of collagen in
the stroma, so that the light that is reflected from the
epithelium undergoes Mie scattering(which is not strongly
frequency-dependent) rather than Rayleigh scattering (in
which shorter wavelengths of light are scattered more). This
would be analogous to the change in the color of the sky,
from the blue given by the Rayleigh scattering of sunlight by
small gas molecules when the sky is clear, to the gray caused
by Mie scattering of large water droplets when the sky is
cloudy. Alternatively, it has been suggested that gray and blue
eyes might differ in the concentration of melanin at the front
of the stroma. Gray eyes are most common in Northern and
Eastern Europe. Under magnification, gray eyes exhibit small
amounts of yellow and brown color in the iris.
 GREEN
Green eyes are the least common eye color. In order to have green
eyes a person must have a yellow colored stroma. The yellowish
stroma appears green due to Rayliegh scattering, the principle that
makes the sky blue, blue plus yellow equals green. Rayliegh
scattering is the scattering of molecules and and atoms that occurs
when light travels through transparent liquids or gasses.There are
two different types of melanin, the pigment that allows skin to tan
and that makes brown eyesbrown. There is a dark, black melanin
and a yellow melanin. An eye without melanin, either black or
yellow will be blue. Green eyes are caused by low levels of black
melanin and higher levels of the yellow melanin.Babies with green
eyes are born with blue or gray eyes, just like other Caucasian
babies. Green eyes do not appear immediately and may take
several months to appear. The most dramatic changes to a baby's
eye color will typically occur sometime after 6 months of age, but
can continue to change for several years. Green eyes are common
in Tabby cats as well as the Chinchilla Longhair and its shorthaired
equivalents are notable for their black-rimmed sea-green eyes.
 HAZEL
Hazel eyes are one of the least understood eye colors. What color are hazel eyes?
This color is semi-rare and is a combination of several other colors including green
and brown. Hazel eyes have less melanin than brown eyes, but more than blue
eyes. This eye color can be difficult to define since there is often substantial
variation in this eye color. Hazel eyes often appear to shift in color from brown to
green. People with this eye color often have a multicolored iris with one color being
found close to the pupil and a different color found around the edges. One study
indicates that 74% of hazel eyes have a brown ring around the pupil. Hazel eyes are
a combination of Rayleigh scattering, the principle that makes the sky and blue
eyes appear blue, and melanin, the pigment that makes brown eyes brown. Hazel
eyes are really difficult to define. What is considered hazel? When does hazel
become brown or green? Eye color is currently divided in to four main
categories: brown, blue, green and hazel. However, to accurately define eye color
there would need to be many more classifications.No one really knows what makes
hazel eyes. Some researchers guess that hazel is simply a combination of brown
and green eyes. Others guess that there may be modifier genes that cause the eye
to make more or less melanin. Hazel eyes are one of the least understood eye
colors. Researchers have a basic understanding of where brown, blue and green
eyes come from genetically, but hazel eyes are a lot harder to understand and are
much more complex. Hazel eyes are common throughout Caucasoid populations, in
particular in regions where blue, green and brown eyed peoples are intermixed.
 RED AND VIOLET
The eyes of people with severe forms of albinismmay appear red under certain
lighting conditions owing to the extremely low quantities
of melanin,allowing the blood vessels to show through. In addition, flash
photography can sometimes cause a "red-eye effect", in which the very
bright light from a flash reflects off the retina, which is abundantly vascular,
causing the pupil to appear red in the photograph. Although the deep blue
eyes of some people such asElizabeth Taylor can appear violet at certain
times, "true" violet-colored eyes occur only due to albinism. Red eyes are
mainly found in albinos, but there are documented cases of them existing in
people whom otherwise appear to have no other pigmentation anomalies.
Red eyes are most commonly attributed to a leakage of blood into the iris
or large amounts of the red areas of the eyes being present which are
considered to be scarce under normal conditions. Violet eyes are the mixing
of red eyes with a blue reflection. In their truest form they are found in
albinos, although they are possible as a mutation to those who are not
albino. This color is commonly mistaken in people that have blue eyes and
are exhibiting a significant case of bloodshot eyes. In those cases it is
nothing more than a trick of the mind that eyes appear violet and it is only a
temporary condition.
 MEDICAL
IMPLICATIONS
 WILSONS DISEASE
Wilson disease is a genetic disease that prevents the body from removing extra copper. The
body needs a small amount of copper from food to stay healthy; however, too much copper is
poisonous. Normally, the liver filters extra copper and releases it into bile. Bile is a fluid made
by the liver that carries toxins and wastes out of the body through the gastrointestinal tract. In
Wilson disease, the liver does not filter copper correctly and copper builds up in the liver,
brain, eyes, and other organs. Over time, high copper levels can cause life-threatening organ
damage. Wilson's disease involves a mutation of the gene coding for the enzyme ATPase7B,
which preventscopper within the liver from entering the Golgi apparatus in cells. Instead, the
copper accumulates in the liver and in other tissues, including the iris of the eye. This results in
the formation of Kayser–Fleischer rings, which are dark rings that encircle the periphery of the
iris Wilson disease is caused by an inherited autosomal recessive mutation, or change, in
the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation
from both parents to have an increased likelihood for the disease. The chance of a child
inheriting autosomal recessive mutations from both parents with a gene mutation is 25
percent, or one in four. If only one parent carries the mutated gene, the child will not get the
disease, although the child may inherit one copy of the gene mutation. The child is called a
“carrier” of the disease and can pass the gene mutation to the next generation. Genetic testing
is a procedure that identifies changes in a patient’s genes and can show whether a parent or
child is a carrier of a mutated gene. Autosomal recessive diseases are typically not seen in
every generation of an affected family. Men and women develop Wilson disease at equal rates.
About one in 30,000 people have Wilson disease. Symptoms usually appear between ages 5
and 35; however, new cases have been reported in people ages 3 to 72. A person’s risk of being
a carrier or having Wilson disease increases when his or her family has a known history of
Wilson disease. Some people may not know about a family history of the condition because
the mutation is often passed to a child by a parent who is a carrier. A person’s chances of
having Wilson disease increase if a health care provider has diagnosed one or both parents
with the condition.
 COLORATION OF SCLERA
Eye color outside of the iris may also be
symptomatic of disease. Yellowing of
the sclera (the "whites of the eyes") is associated
with jaundice, and may be symptomatic of liver
diseases such as cirrhosis or hepatitis. A blue
coloration of the sclera may also be symptomatic
of disease. In general, any sudden changes in the
color of the sclera should be addressed by a
medical professional.
 ANOMALOUS
CONDITIONS OF
THE EYES
 ANIRIDIA
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of
the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen.
Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to
light (photophobia).People with aniridia can also have other eye problems. Increased pressure in
the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of
the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of
affected people, the structures that carry information from the eyes to the brain (optic nerves) are
underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus)
or underdevelopment of the region at the back of the eye responsible for sharp central vision
(foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected
individuals. The severity of symptoms is typically the same in both eyes.Rarely, people with aniridia
have behavioral problems, developmental delay, and problems detecting odors. Aniridia occurs in 1
in 50,000 to 100,000 newborns worldwide. Aniridia is caused by mutations in the PAX6 gene.
The PAX6 gene provides instructions for making a protein that is involved in the early development
of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the
PAX6 protein is involved in the development of a specialized group of brain cells that process smell
(the olfactory bulb). The PAX6 protein attaches (binds) to specific regions of DNA and regulates the
activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor.
Following birth, the PAX6 protein regulates several genes that likely contribute to the maintenance
of different eye structures.Mutations in the PAX6 gene result in the production of a nonfunctional
PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. A lack of
functional PAX6 protein disrupts the formation of the eyes during embryonic development. Aniridia
is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each
cell is sufficient to cause the disorder.In approximately two-thirds of cases, an affected person
inherits the mutation from one affected parent. The remaining one-third of cases result from new
mutations in the gene and occur in people with no history of the disorder in their family.
 OCULAR ALBINISM
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring
(pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue
at the back of the eye. Pigmentation in the eye is essential for normal vision.Ocular albinism is characterized by
severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to
perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time.
Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus);
eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many
affected individuals also have abnormalities involving the optic nerves, which carry visual information from the
eye to the brain.Unlike some other forms of albinism, ocular albinism does not significantly affect the color of
the skin and hair. People with this condition may have a somewhat lighter complexion than other members of
their family, but these differences are usually minor.The most common form of ocular albinism is known as the
Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with
additional signs and symptoms, such as hearing loss. The most common form of this disorder, ocular albinism
type 1, affects at least 1 in 60,000 males. The classic signs and symptoms of this condition are much less
common in females. Ocular albinism type 1 results from mutations in the GPR143 gene. This gene provides
instructions for making a protein that plays a role in pigmentation of the eyes and skin. It helps control the
growth of melanosomes, which are cellular structures that produce and store a pigment called melanin.
Melanin is the substance that gives skin, hair, and eyes their color. In the retina, this pigment also plays a role in
normal vision.Most mutations in the GPR143 gene alter the size or shape of the GPR143 protein. Many of these
genetic changes prevent the protein from reaching melanosomes to control their growth. In other cases, the
protein reaches melanosomes normally but mutations disrupt the protein's function. As a result of these
changes, melanosomes in skin cells and the retina can grow abnormally large. Researchers are uncertain how
these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism.
Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. In these cases, the genetic
cause of the condition is often unknown. Ocular albinism type 1 is inherited in an X-linked pattern. A condition
is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the
two sex chromosomes. In males (who have only one X chromosome), one altered copy of the GPR143 gene in
each cell is sufficient to cause the characteristic features of ocular albinism. Because females have two copies
of the X chromosome, women with only one copy of a GPR143 mutation in each cell usually do not experience
vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can
be detected during an eye examination.
 HETEROCHROMIA
Heterochromia (also known as a heterochromia iridisor heterochromia iridum) is an ocular
condition in which one iris is a different color from the other iris (complete heterochromia),
or where a 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 ofpigment within an iris or
part of an iris, which may be inherited or acquired by disease orinjury. This uncommon
condition usually results due to uneven melanin content. A number of causes are
responsible, including genetic, such as chimerism, Horner's syndrome andWaardenburg
syndrome. A chimera can have two different colored eyes just like any two siblings can—
because each cell has different eye color genes. A mosaic can have two different colored
eyes if the DNA difference happens to be in an eye-color gene. There are many other
possible reasons for having two different-colored eyes. For example, the film actor Lee Van
Cleef was born with one blue eye and one green eye, a trait that reportedly was common in
his family, suggesting that it was a genetic trait. This anomaly, which film producers thought
would be disturbing to film audiences, was "corrected" by having Van Cleef wear brown
contact lenses.[82] David Bowie, on the other hand, had the appearance of different eye
colors due to an injury that caused one pupil to be permanently dilated.Another hypothesis
about heterochromia is that it can result from a viral infection in uteroaffecting the
development of one eye, possibly through some sort of genetic mutation. Occasionally,
heterochromia can be a sign of a serious medical condition.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 pigmentation in one eye.On occasion, a difference in eye color is
caused by blood staining the iris after injury.