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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...
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Article
Open AccessA mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we identify a missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15) in a family wit...
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Article
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Josseline Kaplan, Jean-Michel Rozet and colleagues show that biallelic mutations in NMNAT1 cause an autosomal recessive form of Leber congenital amaurosis characterized by early-onset severe macular atrophy and o...
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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...
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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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Article
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still e...
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Chapter
Phenotype-Genotype Correlations in Retinal Degenerations Caused by Abcr gene Mutations
Stargardt disease (STGD) and late-onset fundus flavimaculatus (FFM) are autosomal recessive conditions leading to macular degenerations in childhood and adulthood, respectively. Recently, mutations of the phot...
