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Article

A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.

Investigative ophthalmology & visual science - 1 Dec 2007

Auslender Noa, Sharon Dror, Abbasi Anan H, Garzozi Hanna J, Banin Eyal, Ben-Yosef Tamar

Abstract excerpt

PURPOSE: To investigate the genetic basis and clinical manifestations of a characteristic form of retinal degeneration in the Yemenite Jewish population. METHODS: Haplotype analysis for all known genes and loci underlying autosomal recessive nonsyndromic retinal degeneration was performed in a Yemenite Jewish family segregating autosomal recessive severe retinal degeneration. The causative mutation was detected...

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Identifiers

PMID: 18055789
DOI: 10.1167/iovs.07-0736

Genes

CERKL

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.PMID 18055789Read ↗

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The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.Semantic proximity Read ↗

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CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.Semantic proximity Read ↗

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.Semantic proximity Read ↗

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CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.Semantic proximity Read ↗

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