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ARVO Annual Meeting Abstract June 2021

Prediction of Causative Genes in Inherited Retinal Disorders from Fundus photography and Fundus Autofluorescence Imaging Utilising Deep Learning Techniques

Yu Fujinami-Yokokawa; Hideki Ninomiya; Xiao liu; Lizhu Yang; Nikolas Pontikos; Kazutoshi Yoshitake; Takeshi Iwata; Yasunori Sato; Takeshi Hashimoto; Hiroaki Miyata; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):91. doi:

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:

ARVO Annual Meeting Abstract June 2020

Novel mutations in Malonyl-CoA-Acyl Carrier Protein Transacylase gene provoke autosomal recessive optic neuropathy

Takeshi Iwata; Huiping Li; Yuan Shiqin; Yuriko Minegishi; Akiko Suga; Kazutoshi Yoshitake; Jianping Ye; Stuart Smith; Gabor Bunkoczi; Megumi Yamamoto; Xunlun Sheng

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2406. 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 March 2020

RDH5 -Related Fundus Albipunctatus in a Large Japanese Cohort

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Satoshi Katagiri; Takaaki Hayashi; Masaki Nakamura; Kei Mizobuchi; Tamaki Gekka; Shiori Komori; Shinji Ueno; Hiroko Terasaki; Hiroyuki Sakuramoto; Kazuki Kuniyoshi; Shunji Kusaka; Ryunosuke Nagashima; Mineo Kondo; Kaoru Fujinami; Kazushige Tsunoda; Tomokazu Matsuura; Hiroyuki Kondo; Kazutoshi Yoshitake; Takeshi Iwata; Tadashi Nakano
TAGS: cohort studies, japanese, pigmentary retinal dystrophy, electroretinography, eye, ophthalmoscopy, genetic pedigree, retinal cone
Invest. Ophthalmol. Vis. Sci.. 2020; 61(3):53. doi: https://doi.org/10.1167/iovs.61.3.53

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 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 2019

Prediction of Causative Genes in Inherited Retinal Disorders From Spectral-domain Optical Coherent Tomography Utilizing Deep Learning Techniques

Yu Yokokawa Fujinami; NIKOLAS PONTIKOS; Lizhu Yang; Kazutoshi Yoshitake; Kazushige Tsunoda; Gavin Arno; Takeshi Iwata; Hiroaki Miyata; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2950. doi:

ARVO Annual Meeting Abstract July 2018

Novel mutation in LRRTM4 is associated with dominantly inherited macular dystrophy with reduced ON-bipolar cell response

Akiko Suga; Yuichi Kawamura; Kazutoshi Yoshitake; Kazushige Tsunoda; Akira Murakami; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):6076. 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 June 2017

Characterization and Genetic Analysis of Cynomolgus Monkeys with Hereditary Macular Drusen

Akiko Suga; Mao Nakayama; Zai-Long Chi; Atsushi Mizota; Nobuhiro Shimozawa; kazutoshi yoshitake; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1853. 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

Genetics August 2016

Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone–Rod Dystrophy

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Akiko Suga; Atsushi Mizota; Mitsuhiro Kato; Kazuki Kuniyoshi; Kazutoshi Yoshitake; William Sultan; Masashi Yamazaki; Yoshikazu Shimomura; Kazuho Ikeo; Kazushige Tsunoda; Takeshi Iwata
TAGS: japanese, mutation, proteins, retinitis pigmentosa, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2016; 57(10):4255-4263. doi: https://doi.org/10.1167/iovs.16-19450

Includes: Supplemental Content

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Prediction of Causative Genes in Inherited Retinal Disorders from Fundus photography and Fundus Autofluorescence Imaging Utilising Deep Learning Techniques

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

Novel mutations in Malonyl-CoA-Acyl Carrier Protein Transacylase gene provoke autosomal recessive optic neuropathy

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

RDH5 -Related Fundus Albipunctatus in a Large Japanese Cohort

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

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

Prediction of Causative Genes in Inherited Retinal Disorders From Spectral-domain Optical Coherent Tomography Utilizing Deep Learning Techniques

Novel mutation in LRRTM4 is associated with dominantly inherited macular dystrophy with reduced ON-bipolar cell response

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

Characterization and Genetic Analysis of Cynomolgus Monkeys with Hereditary Macular Drusen

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

Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone–Rod Dystrophy

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