Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
Definition
Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
Also known as OCA1A, oculocutaneous albinism caused by mutation in TYR, oculocutaneous albinism, tyrosinase-negative, TYR oculocutaneous albinism, tyrosinase-negative oculocutaneous albinism — per MONDO