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Article

X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation.

Ophthalmic genetics - 1 Feb 2020

Smith Logan M, Cernichiaro-Espinosa Linda A, McKeown Craig A, Tekin Mustafa, Lam Byron L, Chiang John, Russell Jonathan F, Berrocal Audina M

Abstract excerpt

Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary retinopathy that commonly presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis with no macular schisis.Materials and Methods: A retrospective case series of three JXLRS patients with genetically confirmed RS1 genotypes was identified. Presence of macular and/or peripheral...

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PMID: 32124668
DOI: 10.1080/13816810.2020.1723115

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