J Fr Ophtalmol. 2010 Feb;33(2):117.e1-5. Epub 2010 Jan 6.

[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].

[Article in French]

Aboussair N, Berahou A, Perrault I, Elalaoui SC, Megzari A, Rozet JM, Kaplan J, Sefiani A.

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Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Maroc. nisrineaboussair@yahoo.fr

Abstract

Leber congenital amaurosis (LCA) is a the earliest and most severe form of retinal dystrophy responsible for congenital blindness. LCA has genetic heterogeneity and the study of this disease is elucidating the genetics and molecular interactions involved in the development of the retina. To date, 11 LCA genes have been mapped, ten of which have been identified. The CEP290 gene has been shown to account for Joubert and Senior-Loken syndromes and to be a frequent cause of nonsyndromic LCA. We report here the first Arab patient, born to consanguineous parents, with Leber congenital amaurosis attributable to mutation of the CEP290 gene.

PMID:: 20056295; [PubMed - indexed for MEDLINE]

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