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Article

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Sept 2006

El Matri Leila, Ambresin Aude, Schorderet Daniel F, Kawasaki Aki, Seeliger Mathias W, Wenzel Andreas, Arsenijevic Yvan, Borruat François-Xavier, Munier Francis L

Abstract excerpt

PURPOSE: To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). METHODS: All accessible family members were included. They underwent blood sampling and ophthalmological examination including, when possible,...

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Source

Identifiers

PMID: 16518657
DOI: 10.1007/s00417-005-0096-2

Genes

RPE65
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16518657-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

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Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.PMID 16518657Read ↗

Identifying mutations in Tunisian families with retinal dystrophy.Semantic proximity Read ↗

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