albinism oculocutaneous type 1A

albinism oculocutaneous type 1A

An autosomal recessive disorder (OMIM:203100) characterised by complete lack of tyrosinase activity, resulting in an absence of melanin in skin, hair and eyes; hypersensitivity to UV light; predisposition to skin cancer; and vision defects, including decreased visual acuity, nystagmus, strabismus and photophobia.

Molecular pathology
Defects in TYR, which encodes tyrosinase, a copper-containing oxidase involved inmelanin formation and metabolism of other polyphenolic compounds, cause oculocutaneous albinism type 1A.