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- W2019574703 abstract "L’amaurose congénitale de Leber est la dystrophie rétinienne la plus précoce et la plus sévère, responsable de cécité néonatale. Cette maladie autosomique récessive est caractérisée par une grande hétérogénéité génétique et physiopathologique. En effet, à ce jour, 10 gènes impliqués dans des voies physiologiques différentes ; et 1 locus ont été rapportés. Le gène CEP290 (NPHP6) est responsable des syndromes de Joubert et de Senior-Loken. Par ailleurs, de récentes études ont montré qu’il représente une cause fréquente de l’amaurose congénitale de Leber. Nous rapportons la première observation d’amaurose congénitale de Leber secondaire à une mutation du gène CEP290 (NPHP6) chez une patiente arabe originaire du Maroc. 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." @default.
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- W2019574703 date "2010-02-01" @default.
- W2019574703 modified "2023-10-17" @default.
- W2019574703 title "Première observation maghrébine d’amaurose congénitale de Leber secondaire à une mutation du gène CEP290" @default.
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- W2019574703 doi "https://doi.org/10.1016/j.jfo.2009.11.009" @default.
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