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Article

Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.

Ophthalmic genetics - 1 Mar 2014

Suto Kimiko, Hosono Katsuhiro, Takahashi Masayo, Hirami Yasuhiko, Arai Yuki, Nagase Yasunori, Ueno Shinji, Terasaki Hiroko, Minoshima Shinsei, Kondo Mineo, Hotta Yoshihiro

Abstract excerpt

BACKGROUND: To characterize the clinical phenotypes associated with previously-reported mutations of the eyes shut homolog (EYS) gene, including a truncating mutation, c.4957_4958insA, which is a major causative mutation for retinitis pigmentosa (RP) in Japan. MATERIALS AND METHODS: The study population comprised ten unrelated RP subjects with very likely pathogenic mutations in both alleles, four of them with a...

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Identifiers

PMID: 23421333
DOI: 10.3109/13816810.2013.768673

Genes

EYS

Variants

Provenance

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

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