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Article

A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

American journal of ophthalmology - 1 Jun 2018

Sengillo Jesse D, Lee Winston, Nagasaki Takayuki, Schuerch Kaspar, Yannuzzi Lawrence A, Freund K Bailey, Sparrow Janet R, Allikmets Rando, Tsang Stephen H

Abstract excerpt

PURPOSE: Mutations in the eyes shut homolog (EYS) gene are a frequent cause of autosomal recessive retinitis pigmentosa (arRP). This study used multimodal retinal imaging to elucidate genotype-phenotype correlations in EYS-related RP (EYS-RP). DESIGN: Cross-sectional study. METHODS: Multimodal retinal imaging and electrophysiologic testing were assessed for 16 patients with genetic confirmation of EYS-RP....

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Source

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Identifiers

PMID: 29550188
DOI: 10.1016/j.ajo.2018.03.008
PMCID: PMC8451245

Genes

EYS

Provenance

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.

Related research

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A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.PMID 29550188Read ↗

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