title: [The genetics of hereditary cataract].
abstract: Congenital cataracts are an important cause of visual impairment in children. Approximately one-third of congenital cataracts are hereditary. The disease, when inherited as an isolated abnormality, is phenotypically and genetically heterogeneous. Autosomal dominant forms with high penetrance appear to be the most common. To date, thirteen genes have been implicated in cataractogenesis. The identification of the genetic mutations causing congenital cataracts will provide a better understanding of cataractogenesis in childhood and provide further insights into normal lens development.
authors.affiliation: Service d'Ophtalmologie, Pavillon C, Hôpital Edouard Herriot, Place d'Arsonval, 69437 Lyon Cedex 03.
authors.forename: F
authors.initials: F
authors.lastname: Beby
authors.forename: L
authors.initials: L
authors.lastname: Morle
authors.forename: L
authors.initials: L
authors.lastname: Michon
authors.forename: Bozon
authors.initials: B
authors.lastname: M
authors.forename: P
authors.initials: P
authors.lastname: Edery
authors.forename: C
authors.initials: C
authors.lastname: Burillon
authors.forename: Ph
authors.initials: P
authors.lastname: Denis
mesh_terms: D020346:Aquaporins; D002386:Cataract / Q000145:classification / Q000151:congenital* / Q000235:genetics*; D002874:Chromosome Mapping; D017630:Connexins / Q000235:genetics; D003459:Crystallins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D005293:Ferritins / Q000235:genetics; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007908:Lens, Crystalline / Q000196:embryology; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics
chemical_list: D020346:Aquaporins; D017630:Connexins; D003459:Crystallins; D005136:Eye Proteins; D008562:Membrane Glycoproteins; D014157:Transcription Factors; C030328:aquaporin 0; D005293:Ferritins