Albinism

(Hypopigmentation; Oculocutaneous Albinism; Ocular Albinism)

by Cynthia M. Johnson, MA

Definition

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

Causes

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.

Risk Factors

The risk of this problem 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

Symptoms

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.

Diagnosis

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.

Treatment

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.

Eye Symptom—Strabismus

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

Genetic and Rare Diseases Information Center—National Institutes of Health
https://www.rarediseases.info.nih.gov

National Organization for Albinism and Hypopigmentation
http://www.albinism.org

CANADIAN RESOURCES:

Canadian Dermatology Association
http://www.dermatology.ca

Canadian Ophthalmological Society
http://www.eyesite.ca

References:

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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