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Article

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

Ophthalmology - 1 Oct 2010

Littink Karin W, van den Born L Ingeborgh, Koenekoop Robert K, Collin Rob W J, Zonneveld Marijke N, Blokland Ellen A W, Khan Hayat, Theelen Thomas, Hoyng Carel B, Cremers Frans P M, den Hollander Anneke I, Klevering B Jeroen

Abstract excerpt

OBJECTIVE: To determine the prevalence of mutations in the EYS gene in a cohort of patients affected by autosomal recessive retinitis pigmentosa (RP) and to describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: Two hundred forty-five patients affected by autosomal recessive RP. ME...

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Source

Identifiers

PMID: 20537394
DOI: 10.1016/j.ophtha.2010.01.040

Genes

EYS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20537394-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.PMID 20537394Read ↗

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