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Meeting Abstract (10)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (12)

Article Type

ARVO Annual Meeting Abstract (10)
Genetics (2)

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Eye Anatomy and Disorders (2)
Genetics (2)
Retina (2)

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cohort studies (2)
retinal diseases (2)
cone dystrophy (1)
eye (1)
family (1)
genes (1)
genotype (1)
japanese (1)
macular dystrophy (1)
mutation (1)

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Genetics August 2019

Phenotypical Characteristics of POC1B -Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

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Shuhei Kameya; Kaoru Fujinami; Shinji Ueno; Takaaki Hayashi; Kazuki Kuniyoshi; Ryuichi Ideta; Sachiko Kikuchi; Daiki Kubota; Kazutoshi Yoshitake; Satoshi Katagiri; Hiroyuki Sakuramoto; Taro Kominami; Hiroko Terasaki; Lizhu Yang; Yu Fujinami-Yokokawa; Xiao Liu; Gavin Arno; Nikolas Pontikos; Yozo Miyake; Takeshi Iwata; Kazushige Tsunoda; for the Japan Eye Genetics Consortium
TAGS: cohort studies, cone dystrophy, eye, japanese, ophthalmology, ophthalmoscopy, retinal diseases, universities, spectral domain-optical coherence tomography, mutation
Invest. Ophthalmol. Vis. Sci.. 2019; 60(10):3432-3446. https://doi.org/10.1167/iovs.19-26650

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

A novel homozygous in-frame deletion of GNAT1 gene cause golden discolouration of the fundus and reduced dark-adapted ERG similar to characteristics of Oguchi disease in a Japanese family

Shuhei Kameya; Daiki Kubota; Kiyoko Gocho; Sachiko Kikuchi; Kunihiko Yamaki; Tsutomu Igarashi; Hiroshi Takahashi; Nobuo Ishida; Kazutoshi Yoshitake; Takeshi Iwata; Atsushi Mizota

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2927.

ARVO Annual Meeting Abstract July 2018

A family with a spectrum of Miyake’s disease possibly caused by a novel RP1L1 mutation (S1207F)

Shuhei Kameya; Kiyoko Gocho; Sachiko Kikuchi; Keiichiro Akeo; Daiki Kubota; Yusa Tane; Kei Shinoda; Atsushi Mizota; Kaoru Fujinami; Takeshi Iwata; Kazutoshi Yoshitake; Kazushige Tsunoda; Tsutomu Igarashi; Hiroshi Takahashi

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1429.

ARVO Annual Meeting Abstract July 2018

High-resolution imaging analysis of foveal hypoplasia with a novel PAX6 mutation

Kiyoko Gocho; Daiki Kubota; Sachiko Kikuchi; Tsutomu Igarashi; Hiroshi Takahashi; Shuhei Kameya

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1519.

ARVO Annual Meeting Abstract June 2017

High resolution imaging analysis of female carriers and patients of choroideremia with CHM gene mutation

Kiyoko Gocho; Keiichiro Akeo; Daiki Kubota; Satoshi Katagiri; Sachiko Kikuchi; Takaaki Hayashi; Kunihiko Yamaki; Hiroshi Takahashi; Shuhei Kameya

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):307.

ARVO Annual Meeting Abstract June 2017

Whole exome sequencing reveals DFNB31 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in Japanese family.

Shuhei Kameya; Daiki Kubota; Sachiko Kikuchi; Kiyoko Gocho; Keiichiro Akeo; Kunihiko Yamaki; Hiroshi Takahashi

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3230.

Genetics September 2016

Novel RP1L1 Variants and Genotype–Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy

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Kaoru Fujinami; Shuhei Kameya; Sachiko Kikuchi; Shinji Ueno; Mineo Kondo; Takaaki Hayashi; Kei Shinoda; Shigeki Machida; Kazuki Kuniyoshi; Yuichi Kawamura; Masakazu Akahori; Kazutoshi Yoshitake; Satoshi Katagiri; Ayami Nakanishi; Hiroyuki Sakuramoto; Yoko Ozawa; Kazuo Tsubota; Kunihiko Yamaki; Atsushi Mizota; Hiroko Terasaki; Yozo Miyake; Takeshi Iwata; Kazushige Tsunoda
TAGS: cohort studies, genes, genotype, macular dystrophy, phenotype, photoreceptors, family, retinal diseases
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4837-4846. https://doi.org/10.1167/iovs.16-19670

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

OPA1 sequencing analysis and detailed ophthalmic examinations including the investigation of microcystic macular edema in 18 patients with bilateral optic atrophy

Shuhei Kameya; Kiyoko Gocho; Sachiko Kikuchi; Kenichi Yoshino; Masahiro Miura; Hiroko Yamazaki; Kei shinoda; Atsushi Mizota; Kunihiko Yamaki; Hiroshi Takahashi

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3875.

ARVO Annual Meeting Abstract April 2014

A cone-rod dystrophy patient with a homozygous RP1L1 mutation

Shuhei Kameya; Sachiko Kikuchi; Kiyoko Gocho; Said El Shamieh; Keiichiro Akeo; Yuko Sugawara; Kunihiko Yamaki; Christina Zeitz; Isabelle Audo; Hiroshi Takahashi

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3276.

ARVO Annual Meeting Abstract April 2014

High resolution images of cone photoreceptors with Bietti Crystalline dystrophy associated with CYP4V2 mutation

Kiyoko Gocho; Keiichiro Akeo; Sachiko Kikuchi; Ayumi Usui; Shuhei Kameya; Kunihiko Yamaki; Takaaki Hayashi; Hiroshi Tsuneoka; Atsushi Mizota; Hiroshi Takahashi

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6428.

ARVO Annual Meeting Abstract June 2013

High Resolution Imaging with Adaptive Optics in Patients with Vogt-Koyanagi Harada Disease

Kiyoko Gocho; Sachiko Kikuchi; Takenori Kabuto; Hisatomo Takahashi; Shuhei Kameya; Kunihiko Yamaki; Hiroshi Takahashi

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3442.

ARVO Annual Meeting Abstract June 2013

High resolution cone photoreceptor imaging analysis of an occult macular dystrophy patient with RP1L1 mutation

Shuhei Kameya; Takenori Kabuto; Sachiko Kikuchi; Hisatomo Takahashi; Kiyoko Gocho; Kunihiko Yamaki; Hiroshi Takahashi

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3455.

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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