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Article

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2014

Katagiri Satoshi, Akahori Masakazu, Hayashi Takaaki, Yoshitake Kazutoshi, Gekka Tamaki, Ikeo Kazuho, Tsuneoka Hiroshi, Iwata Takeshi

Abstract excerpt

BACKGROUND: EYS mutations have been identified only in patients with autosomal recessive retinitis pigmentosa (arRP). This study was conducted to describe clinical and genetic features of a Japanese patient with autosomal recessive cone-rod dystrophy (arCRD) and EYS mutations. METHODS: We performed complete ophthalmic examinations including full-field electroretinography (ERG). Genetic analysis using whole-exome...

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Source

Identifiers

PMID: 24652164
DOI: 10.1007/s10633-014-9435-0

Genes

EYS
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.PMID 24652164Read ↗

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.Semantic proximity Read ↗

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EYS is a major gene for rod-cone dystrophies in France.Semantic proximity Read ↗

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.Semantic proximity Read ↗

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.Semantic proximity Read ↗

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations.Semantic proximity Read ↗

A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa.Semantic proximity Read ↗

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.Semantic proximity Read ↗

Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Identification of Novel EYS Mutations by Targeted Sequencing Analysis.Semantic proximity Read ↗

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese PopulationsSemantic proximity Read ↗

High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

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