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Albinism ˈal-bə-ˌniz-əm, al-ˈbī-

By Peter C. Schalock, MD, Harvard Medical School;Massachusetts General Hospital

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Albinism is a rare hereditary disorder in which little or none of the skin pigment melanin is formed. The skin and eyes, or sometimes just the eyes, are affected.

  • Typically, the hair and skin are white and the eyes may be pink or pale blue-gray.

  • Doctors usually diagnose albinism by examining the skin and eyes.

  • There is no treatment, but people with albinism should protect themselves from sunlight.

Albinism is a disorder of skin pigmentation that occurs in people of all ethnicities and throughout the world. It is caused by several rare genetic disorders that, in addition to depigmenting the skin, also affect the eyes with decreased vision, misalignment of the eyes (strabismus), and involuntary eye movements (nystagmus).

A type of albinism, called ocular albinism, affects the eyes but usually not the skin. Another type of albinism occurs with bleeding disorders. One bleeding disorder, called Hermansky-Pudlak syndrome, is fairly common among people from Puerto Rico, occurring in 1 of 1,800 people.

Symptoms of Albinism

Albinism is easily recognized by its typical appearance, including white hair, pale or white skin, and pink or pale blue-gray eyes. People's eyes are very sensitive to light and they often try to avoid bright light.

People who have less typical types of albinism may have some color to their skin, their hair may be somewhat red, and/or their eyes may be blue or brown.

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 sunburn.

Diagnosis of Albinism

  • A doctor's examination

Doctors base the diagnosis of albinism on an examination of the skin and eyes.

Treatment of Albinism

  • Sun protection

  • For strabismus, surgery

No treatment reverses albinism. People with the disorder must take steps to prevent sunburn, including doing the following:

  • 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 or higher

Did You Know...

  • Albinism occurs in people of all ethnicities.

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.

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* This is the Consumer Version. *