title: Prevalence of retinitis pigmentosa in Slovenia.
abstract: Two hundred and twenty-nine symptomatic patients with retinitis pigmentosa were ascertained in Slovenia between 1986 and 1990. Twenty-three further patients were identified while data from 63 families (82 patients) were being collected. After correction for underascertainment, a prevalence of 1 in 6023 was estimated in the Slovene population (1,999,477 in 1990). The highest prevalence of 1 in 1902 was found in the age group 65 years and older. Of 63 analysed families, 17 (27%) showed autosomal dominant, 13 (21%) autosomal recessive, and one family (1.5%) X-linked inheritance; in 30 families (47.5%) isolated cases were found; and in two families the mode of inheritance was impossible to determine.
authors.affiliation: University Department of Obstetrics and Gynecology, University Medical Center, Ljubljana, Slovenia.
authors.forename: B
authors.initials: B
authors.lastname: Peterlin
authors.forename: N
authors.initials: N
authors.lastname: Canki-Klain
authors.forename: V
authors.initials: V
authors.lastname: Morela
authors.forename: B
authors.initials: B
authors.lastname: Stirn
authors.forename: S
authors.initials: S
authors.lastname: Rainer
authors.forename: V
authors.initials: V
authors.lastname: Cerar
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012174:Retinitis Pigmentosa / Q000453:epidemiology* / Q000235:genetics; D012744:Sex Ratio; D017524:Slovenia / Q000453:epidemiology; D014960:X Chromosome