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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

El Matri, Leila ; Ambresin, Aude ; Schorderet, Daniel ; Kawasaki, Aki ; Seeliger, Mathias ; Wenzel, Andreas ; Arsenijevic, Yvan ; Borruat, François‐Xavier ; Munier, Francis

In: Graefe's Archive for Clinical and Experimental Ophthalmology, 2006, vol. 244, no. 9, p. 1104-1112

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    Titre
    • Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene
    Auteur
    • El Matri, Leila. Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
    • Ambresin, Aude. Department of Ophthalmology, Jules Gonin Eye Hospital, University of Lausanne, 1004, Lausanne, Switzerland
    • Schorderet, Daniel. Department of Ophthalmology, Jules Gonin Eye Hospital, University of Lausanne, 1004, Lausanne, Switzerland
    • Kawasaki, Aki. Department of Ophthalmology, Jules Gonin Eye Hospital, University of Lausanne, 1004, Lausanne, Switzerland
    • Seeliger, Mathias. Retinal Electrodiagnostics Research Group, Department of Ophthalmology, University of Tübingen, Tübingen, Germany
    • Wenzel, Andreas. Opthalmology, Retinal Cell Biology, University Hospital of Zurich, Zurich, Switzerland
    • Arsenijevic, Yvan. Department of Ophthalmology, Jules Gonin Eye Hospital, University of Lausanne, 1004, Lausanne, Switzerland
    • Borruat, François‐Xavier. Department of Ophthalmology, Jules Gonin Eye Hospital, University of Lausanne, 1004, Lausanne, Switzerland
    • Munier, Francis. Department of Ophthalmology, Jules Gonin Eye Hospital, University of Lausanne, 1004, Lausanne, Switzerland
    Type de document
    • Postprint
    Langue
    • Inglese
    Publié dans
    • Graefe's Archive for Clinical and Experimental Ophthalmology, 2006, vol. 244, no. 9, p. 1104-1112. Springer-Verlag
    Autre version électronique
    Classification
    • Santé
    Identifiant OAI-PMH
    • oai:doc.rero.ch:317785
    Summary
    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 (θ=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