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  1. No Access

    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...

    Iris Barny, Isabelle Perrault, Marlène Rio, Hélène Dollfus… in Retinal Degenerative Diseases (2019)

  2. No Access

    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...

    Sabrina Mechaussier, Sandrine Marlin, Josseline Kaplan… in Retinal Degenerative Diseases (2019)