title: Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.
abstract: This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins' Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994-1995. Leber congenital amaurosis (LCA) has almost come full circle, from a profound and molecularly uncharacterized form of congenital retinal blindness to one in which a large number of causative genes and disease pathways are known, and the world's first human retinal disease to be treated by gene therapy. Dr. Maumenee's insights, efforts, and leadership have contributed significantly to this remarkable scientific journey. In this manuscript, we present a short summary of the known LCA genes, LCA disease subtypes, and emerging treatment options. Our manuscript consolidates previous knowledge with current findings in an attempt to provide a more comprehensive understanding of LCA.
authors.affiliation: a Department of Paediatric Surgery, Montreal Children's Hospital , McGill University Health Centre , Montreal , Quebec , Canada.|b The McGill Ocular Genetics Laboratory, Paediatric Ophthalmology Division , Montreal Children's Hospital, McGill University Health Centre , Montreal , Quebec , Canada.
authors.forename: Razek Georges
authors.initials: RG
authors.lastname: Coussa
authors.affiliation: b The McGill Ocular Genetics Laboratory, Paediatric Ophthalmology Division , Montreal Children's Hospital, McGill University Health Centre , Montreal , Quebec , Canada.
authors.forename: Irma
authors.initials: I
authors.lastname: Lopez Solache
authors.affiliation: a Department of Paediatric Surgery, Montreal Children's Hospital , McGill University Health Centre , Montreal , Quebec , Canada.|b The McGill Ocular Genetics Laboratory, Paediatric Ophthalmology Division , Montreal Children's Hospital, McGill University Health Centre , Montreal , Quebec , Canada.
authors.forename: Robert K
authors.initials: RK
authors.lastname: Koenekoop
mesh_terms: D005136:Eye Proteins / Q000235:genetics*; D015316:Genetic Therapy; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics* / Q000266:history* / Q000628:therapy; D009154:Mutation
chemical_list: D005136:Eye Proteins
keywords: Causal genes; Leber congenital amaurosis (LCA); disease subtypes; emerging treatment options