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[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation]
- Source :
- Journal francais d'ophtalmologie. 33(2)
- Publication Year :
- 2009
-
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.
- Subjects :
- Base Sequence
Developmental Disabilities
Homozygote
Leber Congenital Amaurosis
Chromosome Mapping
Cell Cycle Proteins
Genes, Recessive
Genetic Counseling
Nystagmus, Pathologic
Arabs
Neoplasm Proteins
Pedigree
Consanguinity
Cytoskeletal Proteins
Genetic Heterogeneity
Morocco
Antigens, Neoplasm
Photophobia
Child, Preschool
Humans
Female
Sequence Deletion
Subjects
Details
- Language :
- French
- ISSN :
- 17730597
- Volume :
- 33
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Journal francais d'ophtalmologie
- Accession number :
- edsair.pmid..........4a581a7df5893ebcb269f0ae11b23634