5 Result(s)
within
Isabelle Perrault
Epidemiology
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Chapter and Conference Paper
Prenatal Human Ocular Degeneration Occurs in Leber’s Congenital Amaurosis
Leber's Congenital Amaurosis (LCA, MIM204000) accounts for at least 5% of all inherited retinal disease and is the most severe form of inherited retinal dystrophy, responsible for congenital blindness with the...
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Chapter and Conference Paper
Leber Congenital Amaurosis — Genoty** Required for Possible Inclusion in a Clinical Trial
The genetic heterogeneity of LCA no longer needs to be demonstrated. Indeed, the six already known disease-causing genes and the two additional LCA loci only account for 45% of all patients. To this tremendous...
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Chapter and Conference Paper
Disease-Associated Variants of the Rod-derived Cone Viability Factor (RdCVF) in Leber Congenital Amaurosis
Leber congenital amaurosis (LCA) is the most early and severe form of all inherited retinal dystrophies, responsible for congenital blindness. The genetic heterogeneity of LCA has been accepted for a long time...
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Chapter and Conference Paper
A First Locus for Isolated Autosomal Recessive Optic Atrophy (ROA1) Maps to Chromosome 8q21-q22
Genetically determined optic atrophies (OA) affect the retinal ganglion cells, the retinal fibre layer or the intra-ocular portion of the optic nerve. Autosomal dominant optic atrophies (DOA) are the most comm...
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Chapter and Conference Paper
Leber Congenital Amaurosis: Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition and Phenotype-Genotype Correlations as a Strategy for Molecular Diagnosis
Leber congenital amaurosis (LCA, MIM 204000) is the earliest and most severe form of all hereditary retinal dystrophies, responsible for congenital blindness. Its frequency, estimated until recently to 5% of a...
