Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome
Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes.
Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin, a natural substance that gives color to your hair, skin, and iris of the eye.
The defects may be passed down 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, as well as vision problems.
Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye colors 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 single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases.
Other complex diseases may lead to loss of coloring in only a certain area (localized albinism). These conditions include:
A person with albinism will have one of the following 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 doctor may also diagnose the condition based on the appearance of your skin, hair, and eyes. An ophthalmologist may perform an electroretinogram, which is a test that can reveal vision problems related to albinism. A visual evoked potentials test can be very useful when the diagnosis is uncertain.
The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder.
Treatment involves protecting the skin and eyes from the sun:
Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).
National Organization for Albinism and Hypopigmentation -- www.albinism.org
International Albinism Center -- albinismdb.med.umn.edu
Hermansky-Pudlak Syndrome Network -- www.hpsnetwork.org
Albinism does not usually affect lifespan. Hermansky-Pudlak syndrome can, however, shorten lifespan due to lung disease or bleeding problems.
People with albinism may be limited in their activities because they can't tolerate the sun.
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 hypopigmentation should consider genetic counseling.
Morelli JG. Hypopigmented lesions. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 645.
Summer GS. Albinism: classification, clinical characteristics, and recent findings. Optom Vis Sci. 2009;86:659-62. PMID: 19390472 www.ncbi.nlm.nih.gov/pubmed/19390472.BACK TO TOP
Review Date: 10/29/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, 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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