Scribd
Upload
114 views3 pages

ALBINISM

Albinism is a genetic disorder characterized by a reduced or absent production of melanin pigment. This causes pale skin, light hair, and vision problems due to a lack of melanin in the eyes and skin. Albinism affects approximately 1 in 17,000 people globally and causes symptoms including lighter skin and hair color than other family members, sensitivity to sunlight, and vision issues like near-sightedness, strabismus, and nystagmus. The condition is caused by mutations in genes responsible for producing the melanin enzyme tyrosinase.

Uploaded by

Lawrence Cezar
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd
114 views3 pages

ALBINISM

Albinism is a genetic disorder characterized by a reduced or absent production of melanin pigment. This causes pale skin, light hair, and vision problems due to a lack of melanin in the eyes and skin. Albinism affects approximately 1 in 17,000 people globally and causes symptoms including lighter skin and hair color than other family members, sensitivity to sunlight, and vision issues like near-sightedness, strabismus, and nystagmus. The condition is caused by mutations in genes responsible for producing the melanin enzyme tyrosinase.

Uploaded by

Lawrence Cezar
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd
You are on page 1/ 3

Albinism is a range of disorders varying in severity.

They are all caused by a reduction


or absence of the pigment melanin, often causing white skin, light hair, and vision
problems. The condition affects an estimated 1 in 17,000 people globally. However, its
prevalence varies by region. In sub-Saharan Africa, the rate of albinism is around 1 in
5,000 but, in Europe and America, it is closer to 1 in 20,000. Albinism affects the sexes
evenly, and all ethnic groups are susceptible.

What is albinism?

Albinism is an inherited disease characterized by a substantially lower rate of melanin


production.

Melanin is the pigment responsible for the color of the skin, hair, and eyes.

In general, but not always, people with albinism have lighter colored skin and hair than
the other members of their family or ethnic group.

Regardless of skin or hair tone, people with albinism always have some level of
dysfunction with their vision.

Because melanin normally protects the skin from UV (ultraviolet) damage, people with
the disorder are more sensitive to sun exposure and have an increased risk of skin
cancer.

Causes

Albinism is caused by a mutation in one of several genes. The genes in question are
responsible for various aspects of the production of melanin by melanocytes in the skin
and eyes.

Most commonly, the mutations interfere with the enzyme tyrosinase (tyrosine 3-
monooxygenase) which synthesizes melanin from the amino acid tyrosine.

Depending on the mutation, melanin production can either be slowed or completely


stopped. But, regardless of the amount of interference with melanin production, there
are always associated problems with the visual system in albinism.

These vision problems occur because of melanin's vital role in the development of the
retina and the optic nerve pathways from the eye to the brain.
Symptoms

Albinism is a genetic disorder affecting roughly 1 in 17,000 people.

The primary symptoms of albinism can be split into the following four categories:

Skin: the most obvious symptom of albinism is a lighter skin tone. However, skin tone
does not always differ substantially. Levels of melanin may slowly increase in some
individuals, slowly darkening their skin tone as they age.

After exposure to the sun, some people with albinism might develop freckles, moles
(generally pink in color due to the reduced quantities of pigment), and large freckle-like
spots called lentigines.

Hair: as with skin, the hair can range in color from white to brown. Those of African or
Asian descent tend to have yellow, brown, or reddish hair.

As the individual ages, their hair color may slowly darken.

Eye color: this can also change with age and varies from very light blue to brown. Low
levels of melanin in the iris mean that the eyes can appear slightly translucent and, in
certain light, look red or pink as the light reflects off the retina at the back of the eye.

The lack of pigment prevents the iris from fully blocking sunlight; this makes people with
albinism sensitive to light (photosensitive).

Vision: vision is always affected by albinism. Changes to eye function can include:

Nystagmus - eyes move rapidly and uncontrollably back and forth

Strabismus - the eyes do not function in unison

Amblyopia - also referred to as a "lazy eye"

Extreme nearsightedness or farsightedness

Photophobia

Optic nerve hypoplasia - underdeveloped optic nerve

Optic nerve misrouting - nerve signals from the retina to the brain follow unusual nerve
routes

Astigmatism - abnormal inflexibility of the front surface of the eye or lens causing
blurred vision.
Vision problems related to albinism tend to be worst in newborns but improve rapidly
over the first 6 months of life; however, they do not tend to reach normal levels of eye
health.

You might also like