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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
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  Data: Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.
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  Data: <searchLink fieldCode="AU" term="%22Koyanagi+Y%22">Koyanagi Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Murakami+Y%22">Murakami Y</searchLink>; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Kominami+T%22">Kominami T</searchLink>; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Fukushima+M%22">Fukushima M</searchLink>; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Goto+K%22">Goto K</searchLink>; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Yokota+S%22">Yokota S</searchLink>; Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Mizobuchi+K%22">Mizobuchi K</searchLink>; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Mawatari+G%22">Mawatari G</searchLink>; Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.<br /><searchLink fieldCode="AU" term="%22Torii+K%22">Torii K</searchLink>; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Inoue+Y%22">Inoue Y</searchLink>; Department of Ophthalmology, School of Medicine, Teikyo University, Itabashi, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ota+J%22">Ota J</searchLink>; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Okuda+D%22">Okuda D</searchLink>; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Fujiwara+K%22">Fujiwara K</searchLink>; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Yamaga+H%22">Yamaga H</searchLink>; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Hisai+T%22">Hisai T</searchLink>; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Endo+M%22">Endo M</searchLink>; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Iijima+H%22">Iijima H</searchLink>; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Kaida+T%22">Kaida T</searchLink>; Miyata Eye Hospital, Miyazaki, Japan.<br /><searchLink fieldCode="AU" term="%22Miyata+K%22">Miyata K</searchLink>; Miyata Eye Hospital, Miyazaki, Japan.<br /><searchLink fieldCode="AU" term="%22Nakazaki+S%22">Nakazaki S</searchLink>; Miyazaki Chuoh Eye Hospital, Miyazaki, Japan.<br /><searchLink fieldCode="AU" term="%22Hayashi+T%22">Hayashi T</searchLink>; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Hirami+Y%22">Hirami Y</searchLink>; Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Akiyama+M%22">Akiyama M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Terao+C%22">Terao C</searchLink>; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; 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