A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passes down from both parents to the child and leads to albinism.
Albinism is an inherited disorder that’s present at birth. Children are at risk of being born with albinism if they have parents with albinism, or parents who carry the gene for albinism.
People with albinism will have the following symptoms:
Albinism occurs with vision problems, which may include:
The most accurate way to diagnose albinism is through genetic testing to detect defective genes related to albinism. Less accurate ways of detecting albinism include an evaluation of symptoms by your doctor or an electroretinogram test. This test measures the response of the light-sensitive cells in the eyes to reveal eye problems associated with albinism.
There’s no cure for albinism. However, treatment can relieve symptoms and prevent sun damage. Treatment may include:
Most forms of albinism don’t affect life span. Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome do affect life span, however. This is because of the health problems associated with the syndromes.
People with albinism may have to limit their outdoor activities because their skin and eyes are sensitive to the sun. UV rays from the sun can cause skin cancer and vision loss in some people with albinism.