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Journal of Ophthalmology
Volume 2015, Article ID 819760, 10 pages
http://dx.doi.org/10.1155/2015/819760
Research Article

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

1Laboratory for Retinal Regeneration, Center for Developmental Biology, RIKEN, Kobe 650-0047, Japan
2Department of Ophthalmology, Case Western Reserve University, Cleveland, OH 44124, USA
3Department of Pharmacology, Case Western Reserve University, Cleveland, OH 44124, USA
4Institute of Biomedical Research Innovation Hospital, Kobe 650-0047, Japan
5Department of Medical Ethics/Medical Genetics, Kyoto University School of Public Health, Kyoto 606-8501, Japan
6Kobe City Medical Center General Hospital, Kobe 650-0047, Japan

Received 7 January 2015; Accepted 19 May 2015

Academic Editor: Antonio Benito

Copyright © 2015 Yuuki Arai et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Citations to this Article [19 citations]

The following is the list of published articles that have cited the current article.

  • Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuending, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P. M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, and Carlo Rivolta. View at Publisher · View at Google Scholar
  • Shinya Murakami, Yoshihiro Asano, Atsuko Imai, Masahiro Kitamura, Jirouta Kitagaki, Shizuka Miyauchi, Shinji Kawai, Ikumi Michikami, Motozo Yamashita, and Satoru Yamada, “A putative association of a single nucleotide polymorphism in GPR126 with aggressive periodontitis in a Japanese population,” PLoS ONE, vol. 11, no. 8, 2016. View at Publisher · View at Google Scholar
  • M Miyata, K Ogino, N Gotoh, S Morooka, T Hasegawa, M Hata, and N Yoshimura, “Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure,” Eye, 2016. View at Publisher · View at Google Scholar
  • Giovanna Alfano, Przemyslaw M. Kruczek, Amna Z. Shah, Barbara Kramarz, Glen Jeffery, Andrew C. Zelhof, and Shomi S. Bhattacharya, “EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones,” Plos One, vol. 11, no. 11, pp. e0166397, 2016. View at Publisher · View at Google Scholar
  • Jing Li, Shuqin Cao, Jeffrey D. Amack, Huaiyu Hu, Miao Yu, Yu Liu, Brianna N. Natale, and Dongliang Wang, “Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish,” Biology Open, vol. 5, no. 11, pp. 1662–1673, 2016. View at Publisher · View at Google Scholar
  • Manabu Miyata, Masayuki Hata, Sotaro Ooto, Ken Ogino, Norimoto Gotoh, Satoshi Morooka, Tomoko Hasegawa, Takako Hirashima, Masako Sugahara, Yoshimasa Kuroda, Kenji Yamashiro, and Nagahisa Yoshimura, “Choroidal And Retinal Atrophy Of Bietti Crystalline Dystrophy Patients With Cyp4v2 Mutations Compared To Retinitis Pigmentosa Patients With Eys Mutations,” Retina, vol. 37, no. 6, pp. 1193–1202, 2017. View at Publisher · View at Google Scholar
  • Katsuhiro Hosono, Shinsei Minoshima, and Yoshihiro Hotta, “Retinitis Pigmentosa in Japanese Population,” Advances in Vision Research, Volume I, pp. 111–128, 2017. View at Publisher · View at Google Scholar
  • Hyeong Gon Yu, Un Chul Park, and Chang Ki Yoon, “Retinitis Pigmentosa in Korean Patients,” Advances in Vision Research, Volume I, pp. 93–104, 2017. View at Publisher · View at Google Scholar
  • Nereida Bravo-Gil, María González-del Pozo, Marta Martín-Sánchez, Cristina Méndez-Vidal, Enrique Rodríguez-de la Rúa, Salud Borrego, and Guillermo Antiñolo, “Unravelling the genetic basis of simplex Retinitis Pigmentosa cases,” Scientific Reports, vol. 7, pp. 41937, 2017. View at Publisher · View at Google Scholar
  • Muriël Messchaert, Lonneke Haer-Wigman, Muhammad I. Khan, Frans P. M. Cremers, and Rob W. J. Collin, “ EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa ,” Human Mutation, 2017. View at Publisher · View at Google Scholar
  • Tamar Ben-Yosef, Hadas Newman, Dror Sharon, Rong Wen, Ziqiang Guan, Alexey Obolensky, Adva Kimchi, Samuel G. Jacobson, Eyal Banin, Samer Khateb, Avigail Beryozkin, Shoshi Kurtzman, Anat Blumenfeld, and Eran Pras, “Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population. Genetic and Clinical Aspects,” Ophthalmology, 2017. View at Publisher · View at Google Scholar
  • Dario Pasquale Mucciolo, Andrea Sodi, Ilaria Passerini, Vittoria Murro, Francesca Cipollini, Isabella Borg, Elisabetta Pelo, Elisa Contini, Gianni Virgili, and Stanislao Rizzo, “ Fundus phenotype in retinitis pigmentosa associated with EYS mutations ,” Ophthalmic Genetics, pp. 1–14, 2018. View at Publisher · View at Google Scholar
  • Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, and Masayo Takahashi, “Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population,” Japanese Journal of Ophthalmology, 2018. View at Publisher · View at Google Scholar
  • Jesse D. Sengillo, Winston Lee, Takayuki Nagasaki, Kaspar Schuerch, Lawrence A. Yannuzzi, K Bailey Freund, Janet Sparrow, Rando Allikmets, and Stephen H. Tsang, “A Distinct Phenotype of Eyes Shut Homolog ( EYS )-Retinitis Pigmentosa is Associated with Variants Near the C-Terminus,” American Journal of Ophthalmology, 2018. View at Publisher · View at Google Scholar
  • Benjamin Yerxa, “Progress in Inherited Retinal Disease Drug Discovery and Development: A Foundation’s Perspective,” Pharmaceutical Research, vol. 35, no. 11, 2018. View at Publisher · View at Google Scholar
  • Hyoung-Tae Kim, Ja Hyun Jang, Kyungeun Kang, Chang-Seok Ki, and Hyewon Chung, “ Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa ,” Laboratory Medicine Online, vol. 8, no. 2, pp. 66, 2018. View at Publisher · View at Google Scholar
  • Shimpei Takita, Kiyoko Miyamoto-Matsui, and Yuko Seko, “ Intra- and interspecies comparison of EYS transcripts highlights its characteristics in the eye ,” The FASEB Journal, vol. 33, no. 8, pp. 9422–9433, 2019. View at Publisher · View at Google Scholar
  • Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P. M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, and Carlo Rivolta, “A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy,” Nature Communications, vol. 10, no. 1, 2019. View at Publisher · View at Google Scholar
  • Laurence H. M. Pierrache, Muriël Messchaert, Alberta A. H. J. Thiadens, Lonneke Haer-Wigman, Yvonne de Jong-Hesse, Wendy A. G. van Zelst-Stams, Rob W. J. Collin, Caroline C. W. Klaver, and L. Ingeborgh van den Born, “ Extending the Spectrum of EYS -Associated Retinal Disease to Macular Dystrophy ,” Investigative Opthalmology & Visual Science, vol. 60, no. 6, pp. 2049, 2019. View at Publisher · View at Google Scholar