Albinism is a rare, non-contagious, genetically inherited condition that occurs worldwide and affects people of all races. The condition affects the production of melanin, resulting in the lack of pigmentation in the hair, skin and eyes. It is estimated that 1 in 17,000 to 20,000 people are born with albinism in the United States. Worldwide, the rate is estimated to be around 1 in 20,000.
Types of Albinism
There are several different types of albinism, all of which are caused by mutations in genes responsible for producing melanin. The most common type of albinism is Oculocutaneous albinism (OCA), which affects the hair, skin and eyes. OCA1 is caused by a mutation in the TYR gene, and OCA2 is caused by a mutation in the OCA2 gene. Other forms of albinism include Hermansky-Pudlak Syndrome (HPS) and Chediak-Higashi Syndrome (CHS).
Signs and Symptoms of Albinism
People with albinism typically have very pale skin, light-colored hair, and light-colored eyes. They may also have vision problems, such as nearsightedness, astigmatism, and photophobia (light sensitivity). People with albinism may also have hearing loss, seizures, and developmental delays.
Treatments for Albinism
There is no cure for albinism, but there are treatments that can help manage its symptoms. These treatments can include vision aids, such as glasses and magnifiers, as well as medications to protect the eyes from the sun. For people with hearing loss, hearing aids and cochlear implants can be used. People with albinism may also benefit from physical and occupational therapy to help improve their motor skills and coordination.