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 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)00019-6

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

ophthalmology

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

18 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 language	English
Pages (from-to)	7-11
Number of pages	5
Journal	Japanese Journal of Ophthalmology
Volume	41
Issue number	1
DOIs	https://doi.org/10.1016/S0021-5155(96)00019-6
Publication status	Published - 01-1997

All Science Journal Classification (ASJC) codes

Ophthalmology

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10.1016/S0021-5155(96)00019-6

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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

@article{84b2bea731ae4d74b78f392b0f5e968a,

title = "Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa",

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.",

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)00019-6",

language = "English",

volume = "41",

pages = "7--11",

journal = "Japanese Journal of Ophthalmology",

issn = "0021-5155",

publisher = "Springer",

number = "1",

}

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: II. Prevalence of autosomal recessive retinitis pigmentosa', Japanese Journal of Ophthalmology, vol. 41, no. 1, pp. 7-11. https://doi.org/10.1016/S0021-5155(96)00019-6

TY - JOUR

T1 - Multicenter genetic study of retinitis pigmentosa in Japan

T2 - II. Prevalence of autosomal recessive 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 - 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.

AB - 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.

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U2 - 10.1016/S0021-5155(96)00019-6

DO - 10.1016/S0021-5155(96)00019-6

M3 - Article

C2 - 9147181

AN - SCOPUS:0030994632

SN - 0021-5155

VL - 41

SP - 7

EP - 11

JO - Japanese Journal of Ophthalmology

JF - Japanese Journal of Ophthalmology

IS - 1

ER -

Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa

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