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

✍ Scribed by 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


Book ID
114044643
Publisher
Springer
Year
1997
Tongue
English
Weight
453 KB
Volume
41
Category
Article
ISSN
0021-5155

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Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding an ortholog of Drosophila spacemaker (spam) as a commonly mutated gene in autosomal recessive RP. In