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.
Oculocutaneous albinism; Ocular albinism
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, kidney, and bowel diseases.
A person with albinism may have one of these symptoms:
Many forms of albinism are associated with the following symptoms:
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.
The following groups can provide more information and resources:
Albinism does not usually affect lifespan. However, HPS 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 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.
Cheng KP. Ophthalmology. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 20.
Joyce JC. Hypopigmented lesions. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 672.
Paller AS, Mancini AJ. Disorders of pigmentation. In: Paller AS, Mancini AJ, eds. Hurwitz Clinical Pediatric Dermatology. 5th ed. Philadelphia, PA: Elsevier; 2016:chap 11.
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