Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.

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Title: Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.
Authors: Koyanagi Y; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Murakami Y; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Kominami T; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Fukushima M; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Goto K; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Yokota S; Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Japan., Mizobuchi K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan., Mawatari G; Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Torii K; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan., Inoue Y; Department of Ophthalmology, School of Medicine, Teikyo University, Itabashi, Tokyo, Japan., Ota J; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Okuda D; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Fujiwara K; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Yamaga H; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Hisai T; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Endo M; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Iijima H; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Kaida T; Miyata Eye Hospital, Miyazaki, Japan., Miyata K; Miyata Eye Hospital, Miyazaki, Japan., Nakazaki S; Miyazaki Chuoh Eye Hospital, Miyazaki, Japan., Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan., Hirami Y; Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Japan., Akiyama M; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Ocular Pathology and Imaging Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Terao C; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Clinical Research Center, Shizuoka General Hospital, Shizuoka, Japan.; Department of Applied Genetics, The School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka, Japan., Momozawa Y; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Sonoda KH; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Nishiguchi KM; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Ikeda Y; Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan. ymocl@med.miyazaki-u.ac.jp.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Dec 06; Vol. 11 (1), pp. 3. Date of Electronic Publication: 2025 Dec 06.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:2056-7944
DOI:10.1038/s41525-025-00541-0