Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive 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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13 Citations (Scopus)

Abstract

Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with autosomal recessive (AR), autosomal dominant, and X-linked modes of inheritance. Autosomal recessive retinitis pigmentosa (ARRP) is the most common form in Japan. A genetic analysis was done to determine the prevalence of ARRP indirectly, to provide an estimation of changing trends in the overall prevalence of RP. Data on the frequency of consanguinity and marriage year of normal parents of 59 ARRP patients were obtained from a nationwide multicenter survey of typical retinitis pigmentosa conducted in 1990. The gene frequency of ARRP was 0.01145 (Dahlberg's formula). In 1990, the number of young symptomatic ARRP patients decreased, while the number of patients aged 40 years and older increased. The total number of symptomatic ARRP patients in 1990 was nearly 21% higher than in 1970. Despite a dramatic decline in consanguinity in recent decades in Japan, the number of ARRP patients has increased. This increase is attributed to greater longevity and overall population growth. Our results suggest that the total number of RP patients has not decreased, and may even have increased.

Original languageEnglish
Pages (from-to)7-11
Number of pages5
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: II. Prevalence of autosomal recessive retinitis pigmentosa. Japanese Journal of Ophthalmology, 41(1), 7-11. https://doi.org/10.1016/S0021-5155(96)00019-6