Albinism is a genetic condition that affects the production of melanin, the pigment that gives color to the skin, hair, and eyes. It is caused by a defect in one of several genes that produce or distribute melanin, which may result in the absence of melanin production or a reduced amount of melanin production. Different types of albinism can occur, based mainly on which gene change caused the disorder. For most types of albinism, both parents must carry the gene in order for their child to develop the condition. Sometimes, albinism is caused by a new gene change (called a mutation) .
People with albinism often have very pale skin, hair, and eyes, and they are prone to sunburn and skin cancer. Eye complications are also common, including poor eyesight, astigmatism, and low vision. Albinism can affect people of all races and ethnic groups. Except for vision problems, most people with albinism are just as healthy as anyone else.
Types of albinism are grouped based on how theyre passed down in families and on the gene that is affected. Some types of albinism include:
- Oculocutaneous albinism (OCA): This type of albinism affects the skin, hair, and eyes. It is caused by mutations of certain genes that affect the amount of melanin your body produces.
- Hermansky-Pudlak syndrome: This type of albinism includes a form of OCA along with blood disorders, bruising issues, and lung, kidney, or bowel diseases.
- Chediak-Higashi syndrome: This type of albinism includes a form of OCA along with immune and neurological issues.
There is no cure for albinism, but management focuses on protecting the skin and eyes from the sun and treating vision problems. If you observe signs of albinism in your baby, talk to your health care provider. Contact your health care provider if your child with albinism experiences frequent nosebleeds, easy bruising, or long-term infections, as these symptoms may suggest rare but serious hereditary conditions that include albinism.
