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Article

Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.

Klinische Monatsblatter fur Augenheilkunde - 1 Apr 2014

Jakobsson C, Othman I S, Munier F L, Schorderet D F, Abouzeid H

Abstract excerpt

BACKGROUND: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation. HISTORY AND SIGNS: We analyzed a family from Yemen in which 3 individuals were affected with LCA. Linkage analysis using markers flanking the known LCA genes was done, followed by direct sequencing of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24771178
DOI: 10.1055/s-0034-1368221

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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