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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation
Journal Francais d'Ophtalmologie, Volume 33, No. 2, Year 2010
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Description
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. © 2009 Elsevier Masson SAS. All rights reserved.
Authors & Co-Authors
Aboussair, Nisrine
Morocco, Agdal Rabat
Institut National D'hygine
Morocco, Marakech
Faculté de Médecine et de Pharmacie de Marrakech
Berahou, A.
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Perrault, Isabelle
France, Paris
Hôpital Necker Enfants Malades
Chafai El Alaoui, Siham Chafai
Morocco, Agdal Rabat
Institut National D'hygine
Megzari, A.
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Rozet, Jean Michel
France, Paris
Hôpital Necker Enfants Malades
Kaplan, Josseline C.
France, Paris
Hôpital Necker Enfants Malades
Sefiani, Abdelaziz
Morocco, Agdal Rabat
Institut National D'hygine
Morocco, Rabat
Mohammed V University in Rabat
Statistics
Citations: 8
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1016/j.jfo.2009.11.009
ISSN:
01815512
Research Areas
Cancer
Disability
Genetics And Genomics
Health System And Policy