title: Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.
abstract: Clarification and classification of the congenital form of blindness known as Leber congenital amaurosis (LCA) continues to provide its challenges and dilemmas. Until recently, seven genes have been identified that cause LCA. Clarifying the relation between LCA and associated neurological abnormalities such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome. This commentary explores the implications of this recent discovery and revisits the classification of LCA.
authors.forename: Elias I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: Robert
authors.initials: R
authors.lastname: Koenekoop
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D000951:Antigens, Neoplasm / Q000235:genetics; D001766:Blindness / Q000145:classification / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006801:Humans; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000151:congenital / Q000235:genetics; D012162:Retinal Degeneration / Q000151:congenital / Q000235:genetics; D013577:Syndrome
chemical_list: D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; D003598:Cytoskeletal Proteins; D009363:Neoplasm Proteins