title: On the molecular genetics of retinitis pigmentosa.
abstract: The human retina carries specialized neurons, the rod and cone photoreceptors, which absorb and transduce light energy and transmit impulses through the optic nerve to the brain. The most prevalent group of inherited retinopathies, affecting approximately 1.5 million people, is collectively termed retinitis pigmentosa (RP). Mutations responsible for RP have now been found in two genes encoding transmembrane proteins of the rod photoreceptor outer segment disc, and a number of additional causative genes have been localized. It is likely that characterization of the majority of such genes over the next few years will lead to a substantial elucidation of the molecular pathology of this debilitating group of hereditary conditions.
authors.affiliation: Department of Genetics, Trinity College, University of Dublin, Ireland.
authors.forename: P
authors.initials: P
authors.lastname: Humphries
authors.forename: P
authors.initials: P
authors.lastname: Kenna
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
mesh_terms: D002874:Chromosome Mapping; D008040:Genetic Linkage; D006801:Humans; D008954:Models, Biological; D009154:Mutation; D010786:Photoreceptor Cells / Q000502:physiology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D012243:Rhodopsin / Q000502:physiology; D014785:Vision, Ocular; D014960:X Chromosome
chemical_list: D012243:Rhodopsin