4 Result(s)
within
Isabelle Perrault
Neurosciences
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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
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skip** or Nonsense-Associated Altered Splicing
CEP290 mutations cause a spectrum of ciliopathies, including Leber congenital amaurosis. Milder retinal diseases have been ascribed to exclusion of CEP290 mutant exons through basal exon skip** (BES) and/or non...
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Chapter and Conference Paper
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss
The specific association of Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (LCA-like) with sensorineural hearing loss (SHL) is uncommon. Recently, we ascribed some of these distinctiv...
