Frontiers in genetics
The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles
Door Weener M, Hatsenko I, Zolnikova I en 7 anderen.
Inhoud in het Engels
Abstract
Purpose
Biallelic EYS variants are one of the frequent causes of autosomal recessive inherited retinal disease worldwide, yet the EYS mutational landscape of Eastern European and Northern Asian populations has not been systematically described. We characterized the molecular and clinical spectrum of EYS-associated retinitis pigmentosa (RP) in this population.
Methods
Thirty-nine patients with confirmed biallelic EYS variants were selected from 500 patients enrolled in the prospective inherited retinal disease genotyping clinical trial (NCT03901391). All patients underwent whole exome sequencing with copy number/structural variant analysis and standardized ophthalmic phenotyping, including best corrected visual acuity (BCVA), slit lamp biomicroscopy, refractometry, perimetry, optical coherent tomography (OCT), fundus autofluorescence (FAF), ophthalmoscopy and electroretinogram (ERG).