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Medical Term:

ocular albinism type 1


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

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.