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Journal of Ophthalmology
Volume 2015, Article ID 693468, 10 pages
http://dx.doi.org/10.1155/2015/693468
Research Article

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

1Department of Ophthalmology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu-shi, Higashi-ku, Shizuoka 431-3192, Japan
2Department of Photomedical Genomics, Basic Medical Photonics Laboratory, Medical Photonics Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu-shi, Higashi-ku, Shizuoka 431-3192, Japan

Received 3 March 2015; Accepted 28 April 2015

Academic Editor: Terri L. Young

Copyright © 2015 Katsuhiro Hosono 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 [9 citations]

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

  • Yasunori Nagase, Kentaro Kurata, Katsuhiro Hosono, Kimiko Suto, Akiko Hikoya, Hiroshi Nakanishi, Kunihiro Mizuta, Hiroyuki Mineta, Shinsei Minoshima, and Yoshihiro Hotta, “ Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations ,” Seminars in Ophthalmology, pp. 1–6, 2017. View at Publisher · View at Google Scholar
  • Samuel G. Jacobson, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Jason Charng, Monica Lu, Shreyasi Choudhury, Sharon B. Schwartz, Elise Heon, Gerald A. Fishman, and Shannon E. Boye, “Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis caused by GUCY2D Mutations,” American Journal of Ophthalmology, 2017. View at Publisher · View at Google Scholar
  • Dror Sharon, Hanna Wimberg, Yael Kinarty, and Karl-Wilhelm Koch, “Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D,” Progress in Retinal and Eye Research, 2017. View at Publisher · View at Google Scholar
  • Kentaro Kurata, Katsuhiro Hosono, and Yoshihiro Hotta, “Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa,” Documenta Ophthalmologica, 2018. View at Publisher · View at Google Scholar
  • Katsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi, Satoshi Katagiri, Hirotomo Saitsu, Kentaro Kurata, Daisuke Miyamichi, Akiko Hikoya, Kei Mizobuchi, Tadashi Nakano, Shinsei Minoshima, Maki Fukami, Hiroyuki Kondo, Miho Sato, Takaaki Hayashi, Noriyuki Azuma, and Yoshihiro Hotta, “Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing,” Scientific Reports, vol. 8, no. 1, 2018. View at Publisher · View at Google Scholar
  • Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima, Tsutomu Ogata, and Yoshihiro Hotta, “Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations,” Japanese Journal of Ophthalmology, 2018. View at Publisher · View at Google Scholar
  • Kentaro Kurata, Katsuhiro Hosono, and Yoshihiro Hotta, “Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa,” Japanese Journal of Ophthalmology, 2018. View at Publisher · View at Google Scholar
  • Daisuke Miyamichi, Sachiko Nishina, Katsuhiro Hosono, Tadashi Yokoi, Kentaro Kurata, Miho Sato, Yoshihiro Hotta, and Noriyuki Azuma, “Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations,” Human Genome Variation, vol. 6, no. 1, 2019. View at Publisher · View at Google Scholar
  • Kentaro Kurata, Katsuhiro Hosono, Takaaki Hayashi, Kei Mizobuchi, Satoshi Katagiri, Daisuke Miyamichi, Sachiko Nishina, Miho Sato, Noriyuki Azuma, Tadashi Nakano, and Yoshihiro Hotta, “X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers,” International Journal of Molecular Sciences, vol. 20, no. 6, pp. 1518, 2019. View at Publisher · View at Google Scholar