(Hypopigmentation; Oculocutaneous Albinism; Ocular Albinism)
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:
- Oculocutaneous albinism (OCA)—affects the skin, hair, and eyes (most common)
- Ocular albinism (OA)—affects the eyes
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 albinism is higher in:
- Children of parents who have albinism
- Children of parents who do not have albinism, but carry the faulty genes that cause it
- People who have other family members with albinism
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:
- Eyes that do not line up the right way and point in different directions
- Problems seeing
- Rapid, irregular eye movements
- Sensitivity to light
Skin problems may be:
- Skin that is extremely light or white
- Frequent sunburns
A person's body hair may also be white or lighter than normal. It depends on how much melanin their body makes.
Albinism is often diagnosed at birth based on the way the baby looks. The doctor may ask about symptoms and past history. Questions may also be asked about any family history of 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:
- Eye care, such as regular eye exams, corrective lenses, and vision aids
- Sun protection, such as wearing protective clothing, sunblock with SPF 30 or higher, and sunglasses with UV protection
Some people may also need surgery to correct eye problems, such as strabismus.
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There are no known guidelines to prevent albinism.
- Albinism. Genetic and Rare Diseases Information Center website. Available at: https://rarediseases.info.nih.gov/diseases/5768/albinism.
- Albinism. NHS website. Available at: https://www.nhs.uk/conditions/albinism.
- Congenital disorders of pigmentation. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/congenital-disorders-of-pigmentation.
- Information bulletin—what is albinism? National Organization for Albinism and Hypopigmentation website. Available at: https://www.albinism.org/information-bulletin-what-is-albinism.
- Kari Kuenn, MD
(C) Copyright 2023 EBSCO Information Services
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