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Article

A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.

Investigative ophthalmology & visual science - 1 Feb 2017

Oki Ryoko, Yamada Kisaburo, Nakano Satoko, Kimoto Kenichi, Yamamoto Ken, Kondo Hiroyuki, Kubota Toshiaki

Abstract excerpt

Purpose: We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. Methods: A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it...

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PMID: 28192564
DOI: 10.1167/iovs.16-20612

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