Multicenter genetic study of retinitis pigmentosa in Japan .2. Prevalence of autosomal recessive retinitis pigmentosa

被引：13
作者：
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
机构：
[1] KYOTO UNIV,SCH MED,KYOTO,JAPAN
[2] TOHOKU UNIV,SCH MED,SENDAI,MIYAGI 980,JAPAN
[3] TOKYO MED & DENT UNIV,TOKYO 113,JAPAN
[4] TEIKYO UNIV,SCH MED,TOKYO 173,JAPAN
[5] NIHON UNIV,SCH MED,TOKYO 102,JAPAN
[6] KEIO UNIV,SCH MED,TOKYO 108,JAPAN
[7] CHIBA UNIV,SCH MED,CHIBA 280,JAPAN
[8] NAGOYA UNIV,SCH MED,NAGOYA,AICHI 466,JAPAN
[9] KANAZAWA UNIV,SCH MED,KANAZAWA,ISHIKAWA 920,JAPAN
[10] HYOGO KENRITSU AMAGASAKI HOSP,AMAGASAKI,HYOGO,JAPAN
[11] KANSAI MED UNIV,MORIGUCHI,OSAKA 570,JAPAN
[12] KYUSHU UNIV,SCH MED,FUKUOKA 812,JAPAN
[13] SAPPORO MED UNIV,SAPPORO,HOKKAIDO,JAPAN
[14] HIROSHIMA UNIV,SCH MED,HIROSHIMA,JAPAN
[15] EHIME UNIV,SCH MED,MATSUYAMA,EHIME 790,JAPAN
[16] KOCHI MED SCH,KOCHI,JAPAN
[17] KAGOSHIMA UNIV,FAC MED,KAGOSHIMA 890,JAPAN
来源：
JAPANESE JOURNAL OF OPHTHALMOLOGY | 1997年 / 41卷 / 01期
关键词：
autosomal recessive inheritance; consanguineous marriage; gene frequency; inbreeding coefficient; prevalence; retinitis pigmentosa;
D O I：
10.1016/S0021-5155(96)00019-6
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
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. (C) 1997 Japanese Ophthalmological Society.
引用
收藏
页码：7 / 11
页数：5
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