What Is Albinism and Albinism in Eye & Skin.

Understanding Albinism

Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. But what is albinism and what causes it?
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren’t able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes. Albinism can affect people of all races, and there are different kinds of albinism.

Some people with a condition called oculocutaneous albinism have extremely pale skin and eyes, and white hair. Others with this same type of albinism might have slightly more color in their hair, eyes, or skin. For some people, albinism affects only their eyes. This is known as ocular albinism. People with ocular albinism usually have blue eyes. In some cases, the iris (the colored part of the eye) has very little color so a person’s eyes might look pink or reddish. This is caused by the blood vessels inside the eye showing through the iris. In some forms of ocular albinism, the hearing nerves hearing may be affected and the person may develop hearing problems or deafness over time.

Except for eye problems, most people with albinism are just as healthy as anyone else. In very rare cases a person’s albinism is part of another condition that involves other health problems in addition to albinism. People with these types of albinism can have such health complications as bleeding, lung, bowel, and immune system problems.

Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Other symptoms can include light skin or changes in skin color; very white to brown hair; very light blue to brown eye color that may appear red in some light and may change with age; sensitivity to sun exposure; and increased risk of developing skin cancer.

Albinism is caused by mutations in one of several genes, and most types are inherited in an autosomal recessive manner. Although there’s no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure.

Background

Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions.
Several types of albinism are recognized. The phenotypic heterogeneity of albinism is due to the different gene mutations affecting various points along the melanin pathway, resulting in varying degrees of decreased melanin production

What Is Albinism in Humans?

Your body produces a type of coloring, or pigment, called melanin. That’s what gives your skin, hair, and eyes their color. Some people’s bodies don’t make much melanin. Or maybe their bodies don’t make any at all. In either case, this condition is called albinism. It’s a condition shared by roughly one in every 20,000 people worldwide.
The result is their skin, hair, and eyes are very light or pale. You can’t treat albinism. But you can protect yourself from the harm it can cause.
What follows is an explanation of albinism and how it can affect someone’s life — maybe even your own.

What is Albinism?

Albinism is an inherited disease characterized by a substantially lower rateTrusted Source of melanin production.
Melanin is the pigment responsible for the color of the skin, hair, and eyes.
People with albinism often have lighter colored skin and hair than the other members of their family or ethnic group. Vision problems are common.
Melanin normally protects the skin from UV (ultraviolet) damage, so people with albinism are more sensitive to sun exposure. There is an increased risk of skin cancer.

Diagnosis

The disorder could be detected with genetic testing, but this is rarely necessary or routinely done. The distinctive physical characteristics and symptoms of albinism are usually enough to diagnose the condition. Note that there can be a great deal of variation among people with albinism in regards to how the condition affects the following.

Hair Color

It can range from very white to brown and, in some cases, be nearly the same as that of a person’s parents or siblings. People with albinism who are of African or Asian descent may have yellow, reddish, or brown hair. Sometimes a person’s hair will become darker as they get older or due to exposure to minerals in water and the environment. Eyelashes and eyebrows usually are very pale.

Skin Color

The complexion of a person with albinism may or may not be noticeably different from that of his or her immediate family members. Some individuals will develop freckles, moles (including pinkish ones that lack pigment), and large freckle-like spots called lentigines. They usually aren’t able to tan, but do sunburn easily.

Eye Color

This can range from very light blue to brown, and it may change with age. However, the lack of pigment in the irises prevents them from completely blocking light from entering the eye, so a person with albinism may appear to have red eyes in some lighting.

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