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Article

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

Investigative ophthalmology & visual science - 1 Sept 2010

Bandah-Rozenfeld Dikla, Littink Karin W, Ben-Yosef Tamar, Strom Tim M, Chowers Itay, Collin Rob W J, den Hollander Anneke I, van den Born L Ingeborgh, Zonneveld Marijke N, Merin Saul, Banin Eyal, Cremers Frans P M, Sharon Dror

Abstract excerpt

PURPOSE: To characterize the role of EYS, a recently identified retinal disease gene, in families with inherited retinal degenerations in the Israeli and Palestinian populations. METHODS: Clinical and molecular analyses included family history, ocular examination, full-field electroretinography (...

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Source

Identifiers

PMID: 20375346
DOI: 10.1167/iovs.09-4732

Genes

EYS
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20375346-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.PMID 20375346Read ↗

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

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

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".Semantic proximity Read ↗

Fundus phenotype in retinitis pigmentosa associated with EYS mutations.Semantic proximity Read ↗

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.Semantic proximity Read ↗

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

EYS Mutations and Implementation of Minigene Assay for Variant Classification in EYS-Associated Retinitis Pigmentosa in Northern SwedenSemantic proximity Read ↗

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

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EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.Semantic proximity Read ↗

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