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albinism Alternative Names albino Definition Albinism refers to a group of disorders that are present at birth. It is characterized by a decrease or lack of color in the skin, hair, and eyes. What is going on in the body? Albinism refers to a group of genetic defects that cause decreased levels of the pigment, melanin, which forms color in skin, hair, and eyes. Low levels of melanin cause very light skin tone and blond-white hair. The eyes might also be affected and have an iris that is dull-gray to blue or brown. Since melanin protects the skin from ultraviolet radiation from the sun, people with albinism are easily sunburned. What are the signs and symptoms of the disease? Symptoms of albinism may include the following: very light skin color blondish-white colored hair eyes that are sensitive to light visual impairments that require glasses or contact lenses, because normal levels of melanin are required for normal vision tendency to sunburn easily, since there is not enough melanin to block ultraviolet rays While some rare forms of albinism can cause hearing impairments or blood-clotting problems, most people with albinism have normal health. Children with albinism grow and develop normally and reach normal intelligence levels. What are the causes and risks of the disease? Albinism is an inherited disorder. A person with albinism has received an abnormal gene from his or her parents. Most children with albinism are born to parents with normal melanin production and no symptoms of albinism. What can be done to prevent the disease? Albinism is an inherited disease and cannot be prevented. How is the disease diagnosed? Albinism is diagnosed using a medical history and complete physical that includes an eye examination. What are the long-term effects of the disease? People with albinism have a much higher risk of skin cancer because they lack a protective pigment in the skin. What are the risks to others? Albinism is not contagious and poses no risk to others. Because it is inherited, it can be passed from parents to their children at conception. What are the treatments for the disease? There is no treatment per se for albinism. People with albinism are advised to avoid excess sun exposure in order to minimize their risk of skin cancer. Large-print books, high-contrast materials, and computers with large letters can help people with visual impairments. What are the side effects of the treatments? Rarely, a person may have an allergic reaction to a certain sunscreen lotion. What happens after treatment for the disease? Albinism is a lifelong condition that cannot be cured. How is the disease monitored? Careful skin examination performed by a healthcare provider should be done periodically to check for skin cancer. Any new or worsening symptoms should be reported to the healthcare provider.

Author: Lynn West, MD Date Written: 12/22/99 Reviewer: Eileen McLaughlin, RN, BSN Date Reviewed: 07/27/01 Potential conflict of interest information for reviewers available on request