Data Sheet 1_The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles.csv

We characterized the molecular and clinical spectrum of EYS-associated retinitis pigmentosa (RP) in this population.</p>Methods<p>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).</p>Results<p>We identified 34 distinct EYS variants: 22 pathogenic, 8 likely pathogenic, and 4 variants of uncertain significance by American College of Medical Genetics (ACMG) criteria.