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Article

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy

10 May 2019

Abstract excerpt

Purpose: To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. Methods: Multiethnic cohort study (N = 30) with biallelic EYS variants from a clinical IRD database (retinitis pigmentosa [RP], N = 27; cone-rod dystrophy [CRD], N = 1; and macular dystrophy, N = 2). In vitro minigene splice assay was performed to determine the effect on EYS pre-mRNA...

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PMID: 31074760
DOI: 10.1167/iovs.18-25531

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