{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T12:37:47Z","timestamp":1787920667548,"version":"build-2784847793"},"reference-count":61,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,11,18]],"date-time":"2021-11-18T00:00:00Z","timestamp":1637193600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["17H06820 and 19K09929"],"award-info":[{"award-number":["17H06820 and 19K09929"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16H06269"],"award-info":[{"award-number":["16H06269"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","award":["n.a."],"award-info":[{"award-number":["n.a."]}],"id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The ministry of education, culture, sports, science, and technology, Japan","award":["16KK019300002"],"award-info":[{"award-number":["16KK019300002"]}]},{"name":"National Hospital Organization Network Research Fund","award":["H30-NHO-Sensory Organs-03"],"award-info":[{"award-number":["H30-NHO-Sensory Organs-03"]}]},{"DOI":"10.13039\/100001116","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","award":["CF-CL-0416-0696-UCL"],"award-info":[{"award-number":["CF-CL-0416-0696-UCL"]}],"id":[{"id":"10.13039\/100001116","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The ministry of health labor and welfare","award":["201711107A"],"award-info":[{"award-number":["201711107A"]}]},{"DOI":"10.13039\/501100004286","name":"Santen (Japan)","doi-asserted-by":"publisher","award":["n.a."],"award-info":[{"award-number":["n.a."]}],"id":[{"id":"10.13039\/501100004286","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18ek0109282h0002"],"award-info":[{"award-number":["18ek0109282h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40\u2019s; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20\/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort.<\/jats:p>","DOI":"10.3390\/genes12111817","type":"journal-article","created":{"date-parts":[[2021,11,19]],"date-time":"2021-11-19T02:43:09Z","timestamp":1637289789000},"page":"1817","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0977-9458","authenticated-orcid":false,"given":"Akio","family":"Oishi","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan"},{"name":"Department of Ophthalmology and Visual Sciences, Nagasaki University, Nagasaki 852-8102, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaoru","family":"Fujinami","sequence":"additional","affiliation":[{"name":"Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan"},{"name":"Institute of Ophthalmology, University College London, London EC1V 9EL, UK"},{"name":"Department of Inherited Eye Disease, Moorfields Eye Hospital, London EC1V 2PD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Go","family":"Mawatari","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki 889-1692, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhisa","family":"Naoi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki 889-1692, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Ikeda","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki 889-1692, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Ueno","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuki","family":"Kuniyoshi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Kindai University, Osaka 589-8511, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-0279","authenticated-orcid":false,"given":"Takaaki","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu 807-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Mizota","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Teikyo University, Tokyo 173-8605, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1543-9345","authenticated-orcid":false,"given":"Kei","family":"Shinoda","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Teikyo University, Tokyo 173-8605, Japan"},{"name":"Department of Ophthalmology, Saitama Medical University, Moroyama 350-0495, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6458-539X","authenticated-orcid":false,"given":"Sentaro","family":"Kusuhara","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6464-4302","authenticated-orcid":false,"given":"Makoto","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Iwata","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0779-7799","authenticated-orcid":false,"given":"Akitaka","family":"Tsujikawa","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazushige","family":"Tsunoda","sequence":"additional","affiliation":[{"name":"Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.preteyeres.2017.03.003","article-title":"Unravelling the genetics of inherited retinal dystrophies: Past, present and 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