Medical

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

Farlex Partner Medical Dictionary © Farlex 2012

Mentioned in

CLCN4
GPR143
ocular albinism 1
ocular albinism type 2
ocular albinism type 3
SHROOM2

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