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