Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan
<i>Peripherin-2</i> (<i>PRPH2</i>) 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 <i>...
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MDPI AG
2021-11-01
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| author | Akio Oishi Kaoru Fujinami Go Mawatari Nobuhisa Naoi Yasuhiro Ikeda Shinji Ueno Kazuki Kuniyoshi Takaaki Hayashi Hiroyuki Kondo Atsushi Mizota Kei Shinoda Sentaro Kusuhara Makoto Nakamura Takeshi Iwata Akitaka Tsujikawa Kazushige Tsunoda |
| author_facet | Akio Oishi Kaoru Fujinami Go Mawatari Nobuhisa Naoi Yasuhiro Ikeda Shinji Ueno Kazuki Kuniyoshi Takaaki Hayashi Hiroyuki Kondo Atsushi Mizota Kei Shinoda Sentaro Kusuhara Makoto Nakamura Takeshi Iwata Akitaka Tsujikawa Kazushige Tsunoda |
| author_sort | Akio Oishi |
| collection | DOAJ |
| description | <i>Peripherin-2</i> (<i>PRPH2</i>) 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 <i>PRPH2</i>-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’s; 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. |
| first_indexed | 2024-03-10T05:28:13Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T05:28:13Z |
| publishDate | 2021-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-0eb153e869f0451885260329ab65019c2023-11-22T23:29:14ZengMDPI AGGenes2073-44252021-11-011211181710.3390/genes12111817Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in JapanAkio Oishi0Kaoru Fujinami1Go Mawatari2Nobuhisa Naoi3Yasuhiro Ikeda4Shinji Ueno5Kazuki Kuniyoshi6Takaaki Hayashi7Hiroyuki Kondo8Atsushi Mizota9Kei Shinoda10Sentaro Kusuhara11Makoto Nakamura12Takeshi Iwata13Akitaka Tsujikawa14Kazushige Tsunoda15Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 606-8507, JapanLaboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, JapanDepartment of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki 889-1692, JapanDepartment of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki 889-1692, JapanDepartment of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki 889-1692, JapanDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, JapanDepartment of Ophthalmology, Kindai University, Osaka 589-8511, JapanDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, JapanDepartment of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu 807-8555, JapanDepartment of Ophthalmology, Teikyo University, Tokyo 173-8605, JapanDepartment of Ophthalmology, Teikyo University, Tokyo 173-8605, JapanDepartment of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 650-0017, JapanDepartment of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 650-0017, JapanDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, JapanDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 606-8507, JapanDivision of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan<i>Peripherin-2</i> (<i>PRPH2</i>) 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 <i>PRPH2</i>-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’s; 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.https://www.mdpi.com/2073-4425/12/11/1817retinitis pigmentosacone-rod dystrophymacular dystrophy<i>peripherin 2</i> (<i>PRPH2</i>)<i>retinal degeneration slow</i> (<i>RDS</i>) |
| spellingShingle | Akio Oishi Kaoru Fujinami Go Mawatari Nobuhisa Naoi Yasuhiro Ikeda Shinji Ueno Kazuki Kuniyoshi Takaaki Hayashi Hiroyuki Kondo Atsushi Mizota Kei Shinoda Sentaro Kusuhara Makoto Nakamura Takeshi Iwata Akitaka Tsujikawa Kazushige Tsunoda Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan Genes retinitis pigmentosa cone-rod dystrophy macular dystrophy <i>peripherin 2</i> (<i>PRPH2</i>) <i>retinal degeneration slow</i> (<i>RDS</i>) |
| title | Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan |
| title_full | Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan |
| title_fullStr | Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan |
| title_full_unstemmed | Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan |
| title_short | Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan |
| title_sort | genetic and phenotypic landscape of i prph2 i associated retinal dystrophy in japan |
| topic | retinitis pigmentosa cone-rod dystrophy macular dystrophy <i>peripherin 2</i> (<i>PRPH2</i>) <i>retinal degeneration slow</i> (<i>RDS</i>) |
| url | https://www.mdpi.com/2073-4425/12/11/1817 |
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