Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa
| Autor: | Keiko Fujiki, Muneyasu Takeda, Takashi Nakagawa, Michio Watanabe, Takashi Tokoro, H Sakaue, Kazuyuki Yoshida, Masayuki Horiguchi, Tsuyoshi Kimura, Mutsuko Hayakawa, Nobuto Ishizaka, Takakazu Honda, Miyo Matsumura, Kanji Choshi, Wakabayashi K, Nobue Kubota, Mizuo Matsui, Kiyoshi Akeo, Yozo Miyake, Kan Koizumi, Tatsuro Ishibashi, Mitsuko Yuzawa, Yoshihisa Oguchi, Emiko Adachi, Yoshihito Honda, Osamu Tamura, Makoto Tamai, Norio Ohba, Takehiko Sakuma, Masanobu Uyama, Yasushi Isashiki, Atsushi Kanai, Nobuko Tagami, Naomi Shimowake, Kawano S, Tomotsugu Yura, Hisayuki Ueno |
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| Rok vydání: | 1997 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics genetic structures Adolescent Eye disease Genes Recessive Consanguinity Age Distribution Gene Frequency Japan Epidemiology Retinitis pigmentosa medicine Prevalence Humans Marriage Child Allele frequency Aged Retrospective Studies Genetics business.industry Genetic heterogeneity Homozygote General Medicine Middle Aged medicine.disease eye diseases Ophthalmology Population Surveillance Multicenter survey Female Autosomal recessive retinitis pigmentosa business Retinitis Pigmentosa |
| Zdroj: | Japanese journal of ophthalmology. 41(1) |
| ISSN: | 0021-5155 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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