Leber's congenital amaurosis: An update

Elisa Fazzi, Sabrina Giovanna Signorini, Barbara Scelsa, Stefania Maria Bova, Giovanni Lanzi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)13-22
Number of pages10
JournalEuropean Journal of Paediatric Neurology
Volume7
Issue number1
DOIs
Publication statusPublished - 2003

Keywords

  • Congenital blindness
  • Genetics
  • Leber's congenital amaurosis
  • Mental retardation
  • Stereotypic behaviours
  • Systemic associations

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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