ocular albinism type 1

ocular albinism type 1

[MIM*300500]
type of ocular albinism characterized by depigmentation of the fundus and prominent choroidal vessels, nystagmus, and titubation; vision is usually impaired; caused by mutation in the OA1 gene on chromosome Xp; X-linked inheritance.
Synonym(s): Nettleshop-Falls albinism