(Hypopigmentation; Oculocutaneous Albinism; Ocular Albinism)
by Cynthia M. Johnson, MA
Albinism is a group of rare, inherited disorders that affect the amount of a pigment called melanin. People with it have little to no pigment in their eyes, skin, and hair.
The two main types are:
All types of OCA and some types of OA are caused by faulty genes. The genes are passed on by both parents.
Some types of OA are passed on from one unaffected parent to a child.
The risk of this problem is higher in:
Problems vary by type of albinism. Some types affect the skin, hair, and eyes. Other types affect only the eyes or only the skin.
Eye problems may be:
Skin problems may be:
A person's body hair may also be white or lighter than normal. It depends on how much melanin their body makes.
The disorder is often diagnosed at birth based on the way the baby looks. The doctor may ask about your symptoms and health history. You may also be asked whether you have family members with albinism. A physical exam will be done. It will focus on the hair and skin. An eye exam will also be done.
There is no cure. The goal of treatment is to manage symptoms. Choices are:
Some people may also need surgery to correct eye problems, such as strabismus.
There are no known guidelines to prevent this health problem.
Genetic and Rare Diseases Information Center—National Institutes of Health
National Organization for Albinism and Hypopigmentation
Canadian Dermatology Association
Canadian Ophthalmological Society
Albinism. Genetic and Rare Diseases Information Center website. Available at: https://rarediseases.info.nih.gov/diseases/5768/albinism. Accessed March 3, 2021.
Albinism. NHS website. Available at: https://www.nhs.uk/conditions/albinism. Accessed March 3, 2021.
Driscoll DJ, Miller JL, et al. Prader-Willi Syndrome. GeneReviews 2016 Feb.
Information bulletin—what is albinism? National Organization for Albinism and Hypopigmentation website. Available at: https://www.albinism.org/information-bulletin-what-is-albinism. Accessed March 3, 2021.
Prader-Willi syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/prader-willi-syndrome-27. Accessed March 4, 2021.
Last reviewed December 2020 by EBSCO Medical Review Board Kari Kassir, MD
Last Updated: 3/4/2021
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