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Article

Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.

Translational vision science & technology - 8 Jul 2022

Lo Jui-En, Cheng Chia-Yi, Yang Chang-Hao, Yang Chung-May, Chen Yi-Chieh, Huang Yu-Shu, Chen Pei-Lung, Chen Ta-Ching

Abstract excerpt

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...

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Identifiers

PMID: 35816039
DOI: 10.1167/tvst.11.7.6
PMCID: PMC9284463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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