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ocular albinism type 1

 

Definition: 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

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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