Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis

X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the RS1 gene. We have identified 37 different mutations in the RS1 gene, including 12 novel mutations, in...

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Detalles Bibliográficos
Autores principales: Kondo, Hiroyuki, Oku, Kazuma, Katagiri, Satoshi, Hayashi, Takaaki, Nakano, Tadashi, Iwata, Akiko, Kuniyoshi, Kazuki, Kusaka, Shunji, Hiyoshi, Atsushi, Uchio, Eiichi, Kondo, Mineo, Oishi, Noriko, Kameya, Shuhei, Mizota, Atsushi, Naoi, Nobuhisa, Ueno, Shinji, Terasaki, Hiroko, Morimoto, Takeshi, Iwaki, Masayoshi, Yoshitake, Kazutoshi, Iejima, Daisuke, Fujinami, Kaoru, Tsunoda, Kazushige, Shinoda, Kei, Iwata, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325138/
https://www.ncbi.nlm.nih.gov/pubmed/30652005
http://dx.doi.org/10.1038/s41439-018-0034-6
Descripción
Sumario:X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the RS1 gene. We have identified 37 different mutations in the RS1 gene, including 12 novel mutations, in 67 Japanese patients from 56 XLRS families. We present clinical features of these patients in relation to the associated mutations.

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