Definition

A group of rare, inherited disorders in which the skin, hair, and eyes have little or no melanin (pigment). Most people with these disorders have very pale skin, white or light-colored hair, and light-colored eyes. People with oculocutaneous albinism can also have vision problems, including blurry vision, rapid eye movement, crossed eyes, and increased sensitivity to light. People with these disorders have a high risk of developing squamous cell skin cancer at a very early age. The seven types of oculocutaneous albinism are caused by mutations (changes) in the TYR, OCA2, TYRP1, SLC45A2, OCA5, SLC24A5, or C10orf11 gene. These genes are involved in making melanin. The amount of skin, hair, and eye pigment seen in each oculocutaneous albinism type depends on the gene and mutation involved. Also called OCA.