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 Horiguchi; Kenji 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

doi:10.1016/S0021-5155(96)00018-4

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

ophthalmology

Research output: Contribution to journal › Article › peer-review

25 Citations (Scopus)

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 language	English
Pages (from-to)	1-6
Number of pages	6
Journal	Japanese Journal of Ophthalmology
Volume	41
Issue number	1
DOIs	https://doi.org/10.1016/S0021-5155(96)00018-4
Publication status	Published - 01-1997

All Science Journal Classification (ASJC) codes

Ophthalmology

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10.1016/S0021-5155(96)00018-4

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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

@article{6cc04d537cf7411eb318a8cbdd7545bb,

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.",

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

note = "Funding Information: This work was supported by a grant for retinochoroidal atrophy research from the Ministry of Health and Welfare of Japan.",

year = "1997",

month = jan,

doi = "10.1016/S0021-5155(96)00018-4",

language = "English",

volume = "41",

pages = "1--6",

journal = "Japanese Journal of Ophthalmology",

issn = "0021-5155",

publisher = "Springer",

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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, Horiguchi, M, Wakabayashi, K, Ishizaka, N, Koizumi, K, Uyama, M, Tagami, N, Ishibashi, T, Honda, T, Nakagawa, T, Takeda, M, Choshi, K, Watanabe, M, Tamura, O, Shimowake, N, Ueno, H, Yoshida, K, Isashiki, Y & Ohba, N 1997, 'Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa', Japanese Journal of Ophthalmology, vol. 41, no. 1, pp. 1-6. https://doi.org/10.1016/S0021-5155(96)00018-4

TY - JOUR

T1 - Multicenter genetic study of retinitis pigmentosa in Japan

T2 - I. Genetic heterogeneity in typical retinitis pigmentosa

AU - Hayakawa, Mutsuko

AU - Fujiki, Keiko

AU - Kanai, Atsushi

AU - Matsumura, Miyo

AU - Honda, Yoshihito

AU - Sakaue, Hiroshi

AU - Tamai, Makoto

AU - Sakuma, Takehiko

AU - Tokoro, Takashi

AU - Yura, Tomotsugu

AU - Kubota, Nobue

AU - Kawano, Shinichiro

AU - Matsui, Mizuo

AU - Yuzawa, Mitsuko

AU - Oguchi, Yoshihisa

AU - Akeo, Kiyoshi

AU - Adachi, Emiko

AU - Kimura, Tsuyoshi

AU - Miyake, Yozo

AU - Horiguchi, Masayuki

AU - Wakabayashi, Kenji

AU - Ishizaka, Nobuto

AU - Koizumi, Kan

AU - Uyama, Masanobu

AU - Tagami, Nobuko

AU - Ishibashi, Tatsuro

AU - Honda, Takakazu

AU - Nakagawa, Takashi

AU - Takeda, Muneyasu

AU - Choshi, Kanji

AU - Watanabe, Michio

AU - Tamura, Osamu

AU - Shimowake, Naomi

AU - Ueno, Hisayuki

AU - Yoshida, Kazuyuki

AU - Isashiki, Yasushi

AU - Ohba, Norio

N1 - Funding Information: This work was supported by a grant for retinochoroidal atrophy research from the Ministry of Health and Welfare of Japan.

PY - 1997/1

Y1 - 1997/1

N2 - 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.

AB - 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.

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U2 - 10.1016/S0021-5155(96)00018-4

DO - 10.1016/S0021-5155(96)00018-4

M3 - Article

C2 - 9147180

AN - SCOPUS:19244381008

SN - 0021-5155

VL - 41

SP - 1

EP - 6

JO - Japanese Journal of Ophthalmology

JF - Japanese Journal of Ophthalmology

IS - 1

ER -

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

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