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

Mutsuko Hayakawa, Keiko Fujiki, Atsushi Kanai, Miyo Matsumura, Yoshihito Honda, Hiroshi Sakaue, Makoto Tamai, Takehiko Sakuma, Takashi Tokoro, Tomotsugu Yura, Nobue Kubota, Shinichiro Kawano, Mizuo Matsui, Mitsuko Yuzawa, Yoshihisa Oguchi, Kiyoshi Akeo, Emiko Adachi, Tsuyoshi Kimura, Yozo Miyake, Masayuki HoriguchiKenji Wakabayashi, Nobuto Ishizaka, Kan Koizumi, Masanobu Uyama, Nobuko Tagami, Tatsuro Ishibashi, Takakazu Honda, Takashi Nakagawa, Muneyasu Takeda, Kanji Choshi, Michio Watanabe, Osamu Tamura, Naomi Shimowake, Hisayuki Ueno, Kazuyuki Yoshida, Yasushi Isashiki, Norio Ohba

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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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalJapanese Journal of Ophthalmology
Volume41
Issue number1
DOIs
Publication statusPublished - 01-01-1997

All Science Journal Classification (ASJC) codes

  • Ophthalmology

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    Hayakawa, M., Fujiki, K., Kanai, A., Matsumura, M., Honda, Y., Sakaue, H., Tamai, M., Sakuma, T., Tokoro, T., Yura, T., Kubota, N., Kawano, S., Matsui, M., Yuzawa, M., Oguchi, Y., Akeo, K., Adachi, E., Kimura, T., Miyake, Y., ... Ohba, N. (1997). Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa. Japanese Journal of Ophthalmology, 41(1), 1-6. https://doi.org/10.1016/S0021-5155(96)00018-4