Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.

ABSTRACT:

Purpose

The purpose of this study was to investigate the genetic and clinical characteristics of eyes shut homolog (EYS)-associated retinitis pigmentosa (RP).

Methods

This was a retrospective cross-sectional observational study of 36 patients with EYS-associated autosomal recessive RP (arRP).

Results

The gene sequencing results revealed that c.6416G>A (p.Cys2139Tyr) and c.7228+1G>A were the two most predominant variants in our cohort and that variants near the C-terminus, which contains alternating laminin and epidermal growth factor (EGF) domains, accounted for the majority of the allele counts (58 of a total of 72) and relative allele frequencies (81%). Over half of the patients presented with pericentral-type RP (n = 19, 60%), which frequently occurred in combinati

SUBMITTER: Lo JE 

PROVIDER: S-EPMC9284463 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature