1. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. (4th March 2018) Authors: Kominami, Azusa; Ueno, Shinji; Kominami, Taro; Nakanishi, Ayami; Ito, Yasuki; Fujinami, Kaoru; Tsunoda, Kazushige; Hayashi, Takaaki; Kikuchi, Sachiko; Kameya, Shuhei; Iwata, Takeshi; Terasaki, Hiroko Journal: Ophthalmic genetics Issue: Volume 39:Number 2(2018) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. (4th July 2018) Authors: Kubota, Daiki; Gocho, Kiyoko; Kikuchi, Sachiko; Akeo, Keiichiro; Miura, Masahiro; Yamaki, Kunihiko; Takahashi, Hiroshi; Kameya, Shuhei Journal: Ophthalmic genetics Issue: Volume 39:Number 4(2018) Page Start: 500 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Closure of a full‐thickness macular hole without vitrectomy in choroideraemia. (14th September 2016) Authors: Ishikawa, Kunihiro; Gekka, Tamaki; Hayashi, Takaaki; Kikuchi, Sachiko; Kameya, Shuhei; Tsuneoka, Hiroshi Journal: Clinical & experimental optometry Issue: Volume 100:Number 3(2017:May) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cone Dystrophy in Patient with Homozygous RP1L1 Mutation. (29th January 2015) Authors: Kikuchi, Sachiko; Kameya, Shuhei; Gocho, Kiyoko; El Shamieh, Said; Akeo, Keiichiro; Sugawara, Yuko; Yamaki, Kunihiko; Zeitz, Christina; Audo, Isabelle; Takahashi, Hiroshi Other Names: Mizota Atsushi Academic Editor. Journal: BioMed research international Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera. (18th August 2015) Authors: Akeo, Keiichiro; Kameya, Shuhei; Gocho, Kiyoko; Kubota, Daiki; Yamaki, Kunihiko; Takahashi, Hiroshi Other Names: Lombardo Marco Academic Editor. Journal: Case reports in ophthalmological medicine Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing. Issue 12 (7th November 2022) Authors: Suga, Akiko; Yoshitake, Kazutoshi; Minematsu, Naoko; Tsunoda, Kazushige; Fujinami, Kaoru; Miyake, Yozo; Kuniyoshi, Kazuki; Hayashi, Takaaki; Mizobuchi, Kei; Ueno, Shinji; Terasaki, Hiroko; Kominami, Taro; Nao‐I, Nobuhisa; Mawatari, Go; Mizota, Atsushi; Shinoda, Kei; Kondo, Mineo; Kato, Kumiko; Se... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 2251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy. (2nd January 2020) Authors: Hayashi, Takaaki; Katagiri, Satoshi; Mizobuchi, Kei; Yoshitake, Kazutoshi; Kameya, Shuhei; Matsuura, Tomokazu; Iwata, Takeshi; Nakano, Tadashi Journal: Ophthalmic genetics Issue: Volume 41:Number 1(2020) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. High-Resolution En Face Images of Microcystic Macular Edema in Patients with Autosomal Dominant Optic Atrophy. (28th November 2013) Authors: Gocho, Kiyoko; Kikuchi, Sachiko; Kabuto, Takenori; Kameya, Shuhei; Shinoda, Kei; Mizota, Atsushi; Yamaki, Kunihiko; Takahashi, Hiroshi Other Names: Votruba Marcela Academic Editor. Journal: BioMed research international Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation. (3rd September 2014) Authors: Gocho, Kiyoko; Kameya, Shuhei; Akeo, Keiichiro; Kikuchi, Sachiko; Usui, Ayumi; Yamaki, Kunihiko; Hayashi, Takaaki; Tsuneoka, Hiroshi; Mizota, Atsushi; Takahashi, Hiroshi Other Names: Lai Timothy Y. Academic Editor. Journal: Journal of ophthalmology Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation. (1st November 2020) Authors: Kubota, Daiki; Matsumoto, Kaori; Hayashi, Mika; Oishi, Noriko; Gocho, Kiyoko; Yamaki, Kunihiko; Kobayakawa, Shinichiro; Igarashi, Tsutomu; Takahashi, Hiroshi; Kameya, Shuhei Journal: Ophthalmic genetics Issue: Volume 41:Number 6(2020) Page Start: 629 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗