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 Für Klinische Und Experimentelle Ophthalmologie
Leila El MatriFrancis L Munier

Abstract

To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). All accessible family members were included. They underwent blood sampling and ophthalmological examination including, when possible, full-field ERG and pupillometry. A genome-wide linkage analysis was initiated. Mutation analysis of the RPE65 gene within the linked interval was performed by bi-directional sequencing. Eleven out of 53 examined members were clinically affected with an EORD. Linkage analysis revealed a maximal lod score of 4.02 (theta=0.1) for the marker D1S207 on 1p31. Mutational screening of the RPE65 gene identified a homozygous R91W mutation co-segregating with the disease in all affected individuals. Eleven homozygotes had nystagmus and acuities ranging from CF to NLP. Two retinal patterns were identified: pattern 1 presented mid-peripheral deep white dot deposits and virtually no clumped pigmentation, whereas pattern 2 showed mid-peripheral pigmented clumps without any white deposits. Homozygotes had no detectable full-field ERG and an abnormal pupillary light reflex. Eleven heterozygotes had normal visual function. We identified and characterised an endemic form ...Continue Reading

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Citations

Feb 16, 2008·Apoptosis : an International Journal on Programmed Cell Death·Sandra Cottet, Daniel F Schorderet
Aug 30, 2008·Biochemistry·Grzegorz BeretaKrzysztof Palczewski
Apr 20, 2010·Progress in Retinal and Eye Research·Artur V Cideciyan
Jan 5, 2011·American Journal of Medical Genetics. Part a·Lilia RomdhaneUNKNOWN Collaborators
Sep 10, 2013·Experimental Eye Research·S MétraillerR Roduit
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Dec 6, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Albert M MaguireTomas S Aleman
May 7, 2021·Orphanet Journal of Rare Diseases·Feng-Juan GaoJi-Hong Wu

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