title: Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa.
abstract: A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was recognized among the normal parents of RP patients. The relative frequencies of inheritance patterns were estimated as: autosomal recessive, 25.2%; autosomal dominant, 16.9%; X-linked, 1.6%; and simplex, 56.3%. A comparison of these results with previous reports in Japan revealed a decline in the relative frequency of autosomal recessive cases and an increase in simplex cases. This suggests a decrease in the incidence of autosomal recessive retinitis pigmentosa in Japan, as well as the necessity for exhaustive investigations aimed at identifying inheritance patterns for RP patients seeking genetic counseling.
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Hayakawa
authors.forename: K
authors.initials: K
authors.lastname: Fujiki
authors.forename: A
authors.initials: A
authors.lastname: Kanai
authors.forename: M
authors.initials: M
authors.lastname: Matsumura
authors.forename: Y
authors.initials: Y
authors.lastname: Honda
authors.forename: H
authors.initials: H
authors.lastname: Sakaue
authors.forename: M
authors.initials: M
authors.lastname: Tamai
authors.forename: T
authors.initials: T
authors.lastname: Sakuma
authors.forename: T
authors.initials: T
authors.lastname: Tokoro
authors.forename: T
authors.initials: T
authors.lastname: Yura
authors.forename: N
authors.initials: N
authors.lastname: Kubota
authors.forename: S
authors.initials: S
authors.lastname: Kawano
authors.forename: M
authors.initials: M
authors.lastname: Matsui
authors.forename: M
authors.initials: M
authors.lastname: Yuzawa
authors.forename: Y
authors.initials: Y
authors.lastname: Oguchi
authors.forename: K
authors.initials: K
authors.lastname: Akeo
authors.forename: E
authors.initials: E
authors.lastname: Adachi
authors.forename: T
authors.initials: T
authors.lastname: Kimura
authors.forename: Y
authors.initials: Y
authors.lastname: Miyake
authors.forename: M
authors.initials: M
authors.lastname: Horiguchi
authors.forename: K
authors.initials: K
authors.lastname: Wakabayashi
authors.forename: N
authors.initials: N
authors.lastname: Ishizaka
authors.forename: K
authors.initials: K
authors.lastname: Koizumi
authors.forename: M
authors.initials: M
authors.lastname: Uyama
authors.forename: N
authors.initials: N
authors.lastname: Ohba
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005111:Extrachromosomal Inheritance / Q000235:genetics*; D005191:Family Characteristics; D005260:Female; D005817:Genetic Counseling; D018740:Genetic Heterogeneity; D018392:Genomic Imprinting; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D012174:Retinitis Pigmentosa / Q000453:epidemiology / Q000235:genetics*; D012189:Retrospective Studies