Oculocutaneous albinism; Ocular albinism
Albinism is a defect of melanin production. Melanin is a natural substance in the body that gives color to your hair, skin, and iris of the eye.
Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin.
These defects may be passed down (inherited) through families.
The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color. They also have vision problems.
Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye color are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina).
Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a change to a single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases.
A person with albinism will have one of these symptoms:
Many forms of albinism are associated with the following symptoms:
Genetic testing offers the most accurate way to diagnose albinism. Such testing is helpful if you have a family history of albinism. It is also useful for certain groups of people who are known to get the disease.
Your health care provider may also diagnose the condition based on the appearance of your skin, hair, and eyes. An eye doctor called an ophthalmologist may perform an electroretinogram. This is a test that can reveal vision problems related to albinism. A test called a visual evoked potentials test can be very useful when the diagnosis is uncertain.
The goal of treatment is to relieve symptoms. It will depend on how severe the disorder is.
Treatment involves protecting the skin and eyes from the sun. To do this:
Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements.
A support group can be helpful for emotional support and for giving and receiving practical advice.
National Organization for Albinism and Hypopigmentation -- www.albinism.org
Hermansky-Pudlak Syndrome Network -- www.hpsnetwork.org
Albinism does not usually affect lifespan. However, Hermansky-Pudlak syndrome can shorten a person's lifespan due to lung disease or bleeding problems.
People with albinism may be limited in their activities because they can't tolerate the sun.
These complications can occur:
Call your health care provider if you have albinism or symptoms such as light sensitivity that cause discomfort. Also call if you notice any skin changes that might be an early sign of skin cancer.
Because albinism is inherited, genetic counseling is important. People with a family history of albinism or very light coloring should consider genetic counseling.
Galbraith SS. Hypopigmented lesions. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 653.BACK TO TOP
Review Date: 10/27/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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