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Disorders of Amino Acid Metabolism
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Albinism

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Albinism is a rare hereditary disorder in which little or no melanin is formed and eye abnormalities occur.

Albinism occurs in people of all races and throughout the world.

Albinism is easily recognized by its typical appearance. People with albinism have white hair, pale skin, and pink or pale blue eyes. The genetic disorder causing albinism also results in decreased vision, misalignment of the eyes (strabismus), and involuntary eye movements (nystagmus). A type of albinism called ocular albinism affects the eyes but not the skin. Another type of albinism occurs with rare bleeding disorders.

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Albinism

Albinism

Because melanin protects the skin from the sun, people with albinism are very prone to sunburn and skin cancer (especially squamous cell carcinoma). Even a few minutes of bright sunlight can cause serious burns.

No treatment reverses albinism. People with the disorder can minimize or prevent problems by doing the following:

Did You Know...
  • Albinism occurs in people of all races.
  • Staying out of direct sunlight
  • Wearing sunglasses with ultraviolet (UV) protection
  • Wearing sun-protective clothing with a rated sun protection factor (SPF)
  • Applying sunscreen that blocks UVA and UVB light with an SPF rating of 50 (see Sunlight and Skin Damage: Avoidance) or higher

The degree to which clothing, even when it covers the body, protects against UV light varies. Generally, the tighter the weave and the heavier the weight, the more protection a fabric provides. Clothing can also be treated with a substance that temporarily increases its SPF.

Doctors can correct strabismus with a surgical procedure.

Last full review/revision January 2013 by Peter C. Schalock, MD

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Pronunciations

melanin

squamous

strabismus

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