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

Details

Ressource 1Download: serval:BIB_A727C9F7322A.P001 (283.95 [Ko])
State: Public
Version: author
License: Not specified
It was possible to publish this article open access thanks to a Swiss National Licence with the publisher.
Serval ID
serval:BIB_A727C9F7322A
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.
Journal
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie
Author(s)
El Matri L., Ambresin A., Schorderet D.F., Kawasaki A., Seeliger M.W., Wenzel A., Arsenijevic Y., Borruat F.X., Munier F.L.
ISSN
0721-832X
Publication state
Published
Issued date
09/2006
Peer-reviewed
Oui
Volume
244
Number
9
Pages
1104-12
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
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, 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. RESULTS: 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. CONCLUSION: We identified and characterised an endemic form of early onset rod-cone dystrophy in a consanguineous population from northeastern Tunisia, due to the prevalence of a single RPE65 mutation. Two funduscopic patterns were identified: white dot deposits in earlier stages and clumped pigment in later stages.
Keywords
Adult, Aged, Carrier Proteins/genetics, Consanguinity, DNA Mutational Analysis, Electroretinography, Eye Proteins/genetics, Female, Fluorescein Angiography, Genetic Markers, Homozygote, Humans, Linkage (Genetics), Lod Score, Male, Middle Aged, Mutation, Pedigree, Phenotype, Polymerase Chain Reaction, Retinal Degeneration/ethnology, Retinal Degeneration/genetics, Tunisia/epidemiology
Pubmed
Web of science
Open Access
Yes
Create date
28/01/2008 12:58
Last modification date
01/10/2019 6:19
Usage data