Albinism Causes and Treatment

Albinism, is a hereditary absence of pigment from the skin, hair, and eyes. It occurs occasionally in many mammals. In man, the estimated incidence of the condition is 1 in 20,000 in the general population.

Albinism occurs in all races of human beings. It also occurs in nearly all classes of the animal kingdom, particularly among mammals. In some cases the albinism is periodic, and is restricted to the winter months, so that it enables animals in snow-covered countries either to approach their prey or to escape detection by their enemies; notable examples are the arctic fox and arctic hare. Albinism is hereditary.

Description

In man, albinism is caused by the lack of melanin, a black pigment that normally colors the hair, skin, and iris of the eye. A completely albino person, whose body contains no melanin, has a milky white skin, white or nearly colorless hair, and pink irises and red pupils.

The iris appears pink because its transparency in the absence of pigment allows the blood in the small vessels of the retina to show through. This transparency of the iris constitutes a disability in sunlight. At night, however, an albino's sight is better than normal, owing to the greater amount of light reaching the retina. The red color of the pupil is caused by the reflection of light from the blood vessels of the retina. Other conditions, especially eye abnormalities such as astigmatism and photophobia (extreme sensitivity to light), frequently occur along with albinism.

Cause

Albinism is caused by an inability of the pigment cells (melanocytes) to produce pigment (melanin). This inability is believed to result from a lack of the enzyme tyrosinase, an enzyme necessary for the production of melanin.

Albinism is a hereditary condition. The absence of certain genes (hereditary units) is thought to account for the lack of tyrosinase. When the gene for normal pigmentation (that is, for the production of tyrosinase) is absent and the gene for no pigmentation (that is, for no tyrosinase) is present in a double state, albinism manifests itself.

Treatment

Until a way is discovered to produce tyrosinase in the pigment cells of the albino, there will be no cure for albinism. Meanwhile, the avoidance of sunlight, for which all albinos have a poor tolerance, and early and careful treatment by an ophthalmologist for any eye abnormalities are helpful in alleviating the handicaps of the condition.

Related Conditions

There are two other pigmentation disorders of the skin that are related to albinism: partial albinism and vitiligo. Partial, or piebald, albinism causes skin changes such as white spotting and white forelock. It has about the same rate of incidence as total albinism, but it is not so disabling. Vitiligo is the absence of pigment in various areas of the body. It occurs in from 1 to 3 percent of the population. The affected areas can be of various shapes and sizes and frequently have hyperpigmented borders. Some areas can repigment, but generally the course of the disease is progressive.

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