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Article

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

Investigative ophthalmology & visual science - 27 Feb 2012

Iwanami Masaki, Oshikawa Mio, Nishida Tomomi, Nakadomari Satoshi, Kato Seishi

Abstract excerpt

PURPOSE: To screen for disease-causing mutations in the Eyes shut homolog (EYS) gene in Japanese patients with retinitis pigmentosa (RP). Methods. Blood samples were obtained from 68 RP patients and 68 controls. Genomic DNA was extracted from the blood samples and used for screening of mutations in the coding exons by direct sequencing. Each patient underwent a detailed clinical examination. RESULTS: Nine...

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Source

Identifiers

PMID: 22302105
DOI: 10.1167/iovs.11-9048

Genes

EYS

Variants

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.

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