title: Retinitis pigmentosa: problems associated with genetic classification.
abstract: Genetic classification of retinitis pigmentosa (RP) can be problematic, due to a large number of isolated cases, reduced penetrance, and considerable variation in expressivity. Another confounder is a high proportion of affected female carriers in X-linked RP. Based on the genetic definitions of five different authors, a reclassification experiment was conducted with 350 Danish families. Agreement existed about a small "nucleus" of familial cases. Most definitions favored autosomal dominant inheritance at the expense of X-linked. The experiment revealed that methodological differences to a large extent might explain the considerable variation among reported genetic frequencies of retinitis pigmentosa.
authors.affiliation: National Eye Clinic for the Visually Impaired, Copenhagen, Denmark.
authors.forename: M
authors.initials: M
authors.lastname: Haim
mesh_terms: D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D012042:Registries; D012174:Retinitis Pigmentosa / Q000145:classification / Q000235:genetics*; D014960:X Chromosome