Article
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Human mutation - 1 Dec 2022
Suga Akiko, Yoshitake Kazutoshi, Minematsu Naoko, Tsunoda Kazushige, Fujinami Kaoru, Miyake Yozo, Kuniyoshi Kazuki, Hayashi Takaaki, Mizobuchi Kei, Ueno Shinji, Terasaki Hiroko, Kominami Taro, Nao-I Nobuhisa, Mawatari Go, Mizota Atsushi, Shinoda Kei, Kondo Mineo, Kato Kumiko, Sekiryu Tetsuju, Nakamura Makoto, Kusuhara Sentaro, Yamamoto Hiroyuki, Yamamoto Shuji, Mochizuki Kiyofumi, Kondo Hiroyuki, Matsushita Itsuka, Kameya Shuhei, Fukuchi Takeo, Hatase Tetsuhisa, Horiguchi Masayuki, Shimada Yoshiaki, Tanikawa Atsuhiro, Yamamoto Shuichi, Miura Gen, Ito Nana, Murakami Akira, Fujimaki Takuro, Hotta Yoshihiro, Tanaka Koji, Iwata Takeshi
Abstract excerpt
Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular...
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