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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

Prediction of glaucomatous visual field progression by genetic variants associated with primary open-angle glaucoma

Fumihiko Mabuchi; Yoichi Sakurada; Kenji Kashiwagi; Mitsuko Takamoto; Makoto Aihara; Takeshi Iwata; Kazuki Hashimoto; Kota Sato; Yukihiro Shiga; Koji Nishiguchi; Toru Nakazawa; Masato Akiyama; Kazuhide Kawase; Mineo Ozaki; Makoto Araie

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1601. 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

Mechanisms of transcriptional regulation of ARMS2/HTRA1 locus as risk factor for age-related macular degeneration

Takeshi Iwata; Daisuke Iejima; Mao Nakayama

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4901. doi:

ARVO Annual Meeting Abstract July 2019

Gene editing of mouse Lrrtm4 , a bipolar synaptic protein, responsible for macular dystrophy in human, shows photoreceptor degeneration by light stimulation.

Akiko Suga; Megumi Yamamoto; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6062. 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 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

Multimodal imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease): EAOMD Report No. 3

Kwangsic Joo; Lizhu Yang; Kazushige Tsunoda; Mineo Kondo; Yu Fujinami; Gavin Arno; Toshihide Kurihara; Kazuo Tsubota; Takeshi Iwata; Xuan Zou; Hui Li; Yozo Miyake; Kyu Hyung Park; Kaoru Fujinami; Ruifang Sui; Se Joon Woo

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1430. doi:

ARVO Annual Meeting Abstract July 2018

Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1

Kaoru Fujinami; Lizhu Yang; Kwangsic Joo; Kazushige Tsunoda; Yuichi Kawamura; Yu Fujinami; Gavin Arno; Toshihide Kurihara; Kazuo Tsubota; Xuan Zou; Hui Li; Kyu Hyung Park; Takeshi Iwata; Yozo Miyake; Se Joon Woo; Ruifang Sui

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1431. doi:

ARVO Annual Meeting Abstract July 2018

Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4

Yu Fujinami; Lizhu Yang; Kwangsic Joo; Kazushige Tsunoda; Mineo Kondo; Gavin Arno; XIAO LIU; Kazuo Tsubota; Takeshi Iwata; Xuan Zou; Hui Li; Kyu Hyung Park; Yozo Miyake; Se Joon Woo; Ruifang Sui; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1432. doi:

ARVO Annual Meeting Abstract July 2018

The oligodendrocyte derived from familial glaucoma patients-iPSCs decreases neuroprotective action for retinal ganglion cells

Satoshi Inagaki; Kazuhide Kawase; Michinori Funato; Kazuki Ohuchi; Shiori Ando; Arisu Sato; Wataru Morozumi; Masamitsu Shimazawa; Daisuke Iejima; Takeshi Iwata; Tetsuya Yamamoto; Hideo Kaneko; Hideaki Hara

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3751. doi:

ARVO Annual Meeting Abstract July 2018

Mutation in Leber’s congenital amaurosis-causing gene cct2 evokes retinal hypoplasia in zebrafish

Yuriko Minegishi; Naoki Nakaya; Takeshi Iwata; Stanislav I Tomarev

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4494. doi:

ARVO Annual Meeting Abstract July 2018

Optimized Homology Directed Repair for Treatment of Inherited Retinal Diseases Using the CRISPR/Cas9 System

Brian P Rossmiller; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5659. 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:

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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

Prediction of glaucomatous visual field progression by genetic variants associated with primary open-angle glaucoma

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

Mechanisms of transcriptional regulation of ARMS2/HTRA1 locus as risk factor for age-related macular degeneration

Gene editing of mouse Lrrtm4 , a bipolar synaptic protein, responsible for macular dystrophy in human, shows photoreceptor degeneration by light stimulation.

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

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)

Multimodal imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease): EAOMD Report No. 3

Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1

Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.4

The oligodendrocyte derived from familial glaucoma patients-iPSCs decreases neuroprotective action for retinal ganglion cells

Mutation in Leber’s congenital amaurosis-causing gene cct2 evokes retinal hypoplasia in zebrafish

Optimized Homology Directed Repair for Treatment of Inherited Retinal Diseases Using the CRISPR/Cas9 System

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

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