/oculocutaneous albinism type 1A

oculocutaneous albinism type 1A

Rare Disease

MONDO:0008745

Also Known As

OCA1ATYR oculocutaneous albinismTyr oculocutaneous albinismoculocutaneous albinism caused by mutation in TYRoculocutaneous albinism caused by mutation in Tyroculocutaneous albinism, tyrosinase-negativetyrosinase-negative oculocutaneous albinismalbinism 1albinism, oculocutaneous, type 1Aalbinism, oculocutaneous, type IAoculocutaneous albinism type IAoculocutaneous albinism, type 1

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.