title: Retinitis pigmentosa in southern Africa.
abstract: Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders which are a common cause of genetic blindness. The relative frequencies of the different forms of RP in South Africa, as determined from the register at the DNA banking centre for RP at the Department of Human Genetics, University of Cape Town, are presented and discussed. Of the 125 families analysed, 29 (23%) showed autosomal dominant, 33 (27%) autosomal recessive and 3 (3%) X-linked inheritance. In 10 families the pedigree data were insufficient to allow accurate genetic subtyping and a further 50 patients were sporadic without a family history of RP or other syndromic features which would allow categorization.
authors.affiliation: Department of Human Genetics, University of Cape Town Medical School, Observatory, Republic of South Africa.
authors.forename: J
authors.initials: J
authors.lastname: Greenberg
authors.forename: L
authors.initials: L
authors.lastname: Bartmann
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
authors.forename: P
authors.initials: P
authors.lastname: Beighton
mesh_terms: D001208:Asia / Q000208:ethnology; D044383:Black People; D005060:Europe / Q000208:ethnology; D005260:Female; D015723:Gene Library; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics*; D013019:South Africa / Q000453:epidemiology; D044465:White People; D014960:X Chromosome