title: Leber's congenital amaurosis: an update.
abstract: Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.
authors.affiliation: Department of Child Neurology and Psychiatry, IRCCS C Mondino Foundation-Institute of Neurology, University of Pavia, Italy. efazzi@unipv.it
authors.forename: Elisa
authors.initials: E
authors.lastname: Fazzi
authors.forename: Sabrina Giovanna
authors.initials: SG
authors.lastname: Signorini
authors.forename: Barbara
authors.initials: B
authors.lastname: Scelsa
authors.forename: Stefania Maria
authors.initials: SM
authors.lastname: Bova
authors.forename: Giovanni
authors.initials: G
authors.lastname: Lanzi
mesh_terms: D001766:Blindness / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics*; D013239:Stereotyped Behavior; D013577:Syndrome