Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa

Jpn J Ophthalmol. 1997 Jan-Feb;41(1):1-6. doi: 10.1016/s0021-5155(96)00018-4.


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.

Publication types

  • Comparative Study
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Distribution
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Child
  • Extrachromosomal Inheritance / genetics*
  • Family Characteristics
  • Female
  • Genetic Counseling
  • Genetic Heterogeneity*
  • Genomic Imprinting
  • Humans
  • Japan / epidemiology
  • Male
  • Middle Aged
  • Nuclear Family
  • Retinitis Pigmentosa / epidemiology
  • Retinitis Pigmentosa / genetics*
  • Retrospective Studies