Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome

by Ryutaro Yamanishi, Natsuko Nakamura, Kazushige Tsunoda
Published 2019-06-01

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings

by Kei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Toshiaki Tachibana, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Published 2020-08-01

Advanced quantitative analysis of the sub-retinal pigment epithelial space in recurrent neovascular age-related macular degeneration.

by Mariko Sasaki, Yu Kato, Kaoru Fujinami, Toshiaki Hirakata, Kazushige Tsunoda, Ken Watanabe, Kunihiko Akiyama, Toru Noda
Published 2017-01-01

Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)

by Kei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Kazuki Kuniyoshi, Reimi Mishima, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Published 2019-03-01

Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques

by Yu Fujinami-Yokokawa, Nikolas Pontikos, Lizhu Yang, Kazushige Tsunoda, Kazutoshi Yoshitake, Takeshi Iwata, Hiroaki Miyata, Kaoru Fujinami, on behalf of Japan Eye Genetics Consortium
Published 2019-01-01

Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with <i>DRAM2</i>-Associated Retinopathy

by Kazuki Kuniyoshi, Takaaki Hayashi, Shuhei Kameya, Satoshi Katagiri, Kei Mizobuchi, Toshiaki Tachibana, Daiki Kubota, Hiroyuki Sakuramoto, Kazushige Tsunoda, Kaoru Fujinami, Kazutoshi Yoshitake, Takeshi Iwata, Tadashi Nakano, Shunji Kusaka
Published 2020-02-01

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

by Satoshi Katagiri, Masakazu Akahori, Yuri Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo, Shinji Ueno, Kazushige Tsunoda, Kei Shinoda, Kazuki Kuniyoshi, Yohinori Tsurusaki, Naomichi Matsumoto, Hiroshi Tsuneoka, Takeshi Iwata
Published 2014-01-01