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ARVO Annual Meeting Abstract June 2021

The clinical and genetic spectrum of cone-dominated retinal dystrophies with normal funduscopic appearance

Kaoru Fujinami; Shinji Ueno; Takaaki Hayashi; Kazuki Kuniyoshi; Mineo Kondo; Atsushi Mizota; Kei Shinoda; Kiyofumi Mochizuki; Shuhei Kameya; Ryuichi Ideta; Nobuhisa Naoi; Yasuhiro Ikeda; Kazutoshi Yoshitake; Yozo Miyake; Takeshi Iwata; Kazushige Tsunoda

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1533. doi:

ARVO Annual Meeting Abstract June 2020

Japan Eye Genetics Consortium: National Cohort Survey and Whole Exome Sequencing Results of Cone-rod dystrophy

Kaoru Fujinami; Kazutoshi Yoshitake; Takaaki Hayashi; Shinji Ueno; Atsushi Mizota; Kei Shinoda; Kazuki Kuniyoshi; Mineo Kondo; Shuhei Kameya; Kiyofumi Mochizuki; Yozo Miyake; Takeshi Iwata; Kazushige Tsunoda

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2382. doi:

Articles May 2020

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D -Associated Retinal Disorder

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Xiao Liu; Kaoru Fujinami; Kazuki Kuniyoshi; Mineo Kondo; Shinji Ueno; Takaaki Hayashi; Kiyofumi Mochizuki; Shuhei Kameya; Lizhu Yang; Yu Fujinami-Yokokawa; Gavin Arno; Nikolas Pontikos; Hiroyuki Sakuramoto; Taro Kominami; Hiroko Terasaki; Satoshi Katagiri; Kei Mizobuchi; Natsuko Nakamura; Kazutoshi Yoshitake; Yozo Miyake; Shiying Li; Toshihide Kurihara; Kazuo Tsubota; Takeshi Iwata; Kazushige Tsunoda; Japan Eye Genetics Consortium
TAGS: cohort studies, family, genetics, japanese, retinal diseases, phenotype, eye, visual acuity
Trans. Vis. Sci. Tech.. 2020; 9(6):2. doi: https://doi.org/10.1167/tvst.9.6.2

Includes: Supplemental Content

Retina November 2019

Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings

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Natsuko Nakamura; Kazushige Tsunoda; Yoshinobu Mizuno; Tomoaki Usui; Tetsuhisa Hatase; Shinji Ueno; Kazuki Kuniyoshi; Takaaki Hayashi; Satoshi Katagiri; Mineo Kondo; Shuhei Kameya; Kazutoshi Yoshitake; Kaoru Fujinami; Takeshi Iwata; Yozo Miyake
TAGS: macular dystrophy, optical coherence tomography, visual acuity, visual symptoms, survival curve, photoreceptors, symptom onset
Invest. Ophthalmol. Vis. Sci.. 2019; 60(14):4691-4700. doi: https://doi.org/10.1167/iovs.19-27486

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. doi: https://doi.org/10.1167/iovs.19-26650

Includes: Supplemental Content

ARVO Imaging in the Eye Conference Abstract August 2019

High resolution adaptive optics imaging analysis of Enhanced S-Cone syndrome with NR2E3 mutation

Kiyoko Gocho; Kazuki Kuniyoshi; Takaaki Hayashi; Satoshi Katagiri; Daiki Kubota; Hiroshi Takahashi; Shuhei Kameya

Invest. Ophthalmol. Vis. Sci.. 2019; 60(11):PB0142. doi:

ARVO Annual Meeting Abstract July 2019

Japan Eye Genetics Consortium: National Cohort Survey and Whole Exome Sequencing Results

Kaoru Fujinami; Kazutoshi Yoshitake; Takaaki Hayashi; Kazuki Kuniyoshi; Shinji Ueno; Mineo Kondo; Kei Shinoda; Shuhei Kameya; Nobuhisa Nao-i; Hiroyuki Kondo; Yozo Miyake; Takeshi Iwata; Kazushige Tsunoda

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1758. doi:

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. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract July 2018

Neutralizing antibody titer against AAV post AAV-mediated intravitreal injection in cynomolgus monkeys.

Masashi Yamazaki; Tsutomu Igarashi; Kazuhisa Takahashi; Koichi Miyake; Maika Kobayashi; Chiemi Yaguchi; Shuhei Kameya; Hiroshi Takahashi; Takashi Okada

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4548. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract June 2017

Improved intravitreal AAV-mediated inner retinal gene transduction by surgical internal limiting membrane (ILM) peeling in cynomolgus monkeys

Kazuhisa Takahashi; Tsutomu Igarashi; Koichi Miyake; Maika Kobayashi; Chiemi Yaguchi; Osamu Iijima; Yoshiyuki Yamazaki; Noriko Miyake; Shuhei Kameya; Takashi Shimada; Hiroshi Takahashi; Takashi Okada

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4482. doi:

ARVO Annual Meeting Abstract September 2016

Japan Occult Macular Dystrophy Project: Association of Genotype and Photoreceptor Architecture

Kaoru Fujinami; Shuhei Kameya; Shinji Ueno; Mineo Kondo; Takaaki Hayashi; Kei Shinoda; Shigeki Machida; Yozo Miyake; Takeshi Iwata; Kazushige Tsunoda

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):125. doi:

ARVO Annual Meeting Abstract September 2016

Comparison of two sampling methods for assessing the cone mosaic in adaptive optics retinal images

Kiyoko Gocho; Keiichiro Akeo; Naoko Ito; Takaaki Hayashi; Daiki Kubota; Shuhei Kameya; Kunihiko Yamaki; Hiroshi Takahashi

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4632. doi:

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. doi: 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. doi:

ARVO Annual Meeting Abstract June 2015

Adaptive optics imaging of microscopic signs of diabetic retinopathy in type 2 diabetic patients

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

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2792. doi:

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. doi:

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The clinical and genetic spectrum of cone-dominated retinal dystrophies with normal funduscopic appearance

Japan Eye Genetics Consortium: National Cohort Survey and Whole Exome Sequencing Results of Cone-rod dystrophy

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D -Associated Retinal Disorder

Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings

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

High resolution adaptive optics imaging analysis of Enhanced S-Cone syndrome with NR2E3 mutation

Japan Eye Genetics Consortium: National Cohort Survey and Whole Exome Sequencing Results

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

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

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

Neutralizing antibody titer against AAV post AAV-mediated intravitreal injection in cynomolgus monkeys.

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

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

Improved intravitreal AAV-mediated inner retinal gene transduction by surgical internal limiting membrane (ILM) peeling in cynomolgus monkeys

Japan Occult Macular Dystrophy Project: Association of Genotype and Photoreceptor Architecture

Comparison of two sampling methods for assessing the cone mosaic in adaptive optics retinal images

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

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

Adaptive optics imaging of microscopic signs of diabetic retinopathy in type 2 diabetic patients

A cone-rod dystrophy patient with a homozygous RP1L1 mutation

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