Albinism Causes & Risks

Causes

Albinism occurs as a result of altered genes, which are in most cases inherited from parents. Albinism appears in different forms and may be inherited by one of several modes: autosomal recessive, autosomal dominant, or X-linked.

Autosomal recessive inheritance accounts for the vast majority of cases. This means that while both parents carry one copy of an abnormal gene, they have no symptoms or signs of albinism. Children become affected only if they inherit one affected gene from each parent. In this form of inheritance, each child has a one-in-four chance of inheriting the condition. The abnormal gene reduces (or completely eliminates) the body’s ability to make a pigment called melanin. There are several dozen different genetic subtypes of albinism which affect melanin production. Individuals can have full or partial absence of this pigment which will affect the color of eyes, hair, and skin.

Risk Factors

A risk factor is something that increases your chances of getting a disease or condition. Albinism is a hereditary disorder. Therefore, people at risk of inheriting albinism are:

• Children of parents who have albinism
• Children of parents who do not have albinism, but carry the altered genes that cause this disorder
• A positive family history for albinism in a sibling or other relative
• Puerto Rican ancestry (this significantly increases the risk of an otherwise rare form of albinism known as Hermansky-Pudlak syndrome)