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  1. No Access

    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...

    Sylvain Hanein, Isabelle Perrault, Sylvie Gerber… in Retinal Degenerative Diseases (2006)

  2. No Access

    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...

    Fabienne Barbet, Sylvie Gerber, Sélim Hakiki… in Retinal Degenerative Diseases (2006)

  3. No Access

    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...

    Sylvain Hanein, Isabelle Perrault, Sylvie Gerber… in Retinal Degenerative Diseases (2006)