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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:

Retina September 2020

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene

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Natsuko Nakamura; Kazushige Tsunoda; Akihiko Mitsutake; Shota Shibata; Tatsuo Mano; Yu Nagashima; Hiroyuki Ishiura; Atsushi Iwata; Tatsushi Toda; Shoji Tsuji; Hiromasa Sawamura
TAGS: genes, neuronal intranuclear inclusion disease, retinal diseases, signs and symptoms
Invest. Ophthalmol. Vis. Sci.. 2020; 61(11):27. doi: https://doi.org/10.1167/iovs.61.11.27

Includes: Supplemental Content

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

Ethnicity of pathogenic variants in the ABCA4 gene: analysis of allele frequency in the general population

Yu Fujinami-Yokokawa; Izumi Naka; Nikolas Pontikos; Gavin Arno; Lizhu Yang; XIAO LIU; Shiying Li; Se Joon Woo; Rene Moya; Kazushige Tsunoda; Hiroaki Miyata; Jun Ohashi; Rupert W. Strauss; Hendrik P Scholl; Michel Michaelides; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2390. 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 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

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

Internal limiting membrane peeling to prevent epiretinal membrane growth after retinal detachment repair: retinal surface wrinkling as a sign of proliferation

Kunihiko Akiyama; Ken Watanabe; Masaki Fukui; Kaoru Fujinami; Kazushige Tsunoda; Toru Noda

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5764. 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 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:

Retina December 2017

Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy

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Yu Kato; Gen Hanazono; Kaoru Fujinami; Tetsuhisa Hatase; Yuichi Kawamura; Takeshi Iwata; Yozo Miyake; Kazushige Tsunoda
TAGS: family, macular dystrophy, mutation, parafoveal region, photoreceptors, eye
Invest. Ophthalmol. Vis. Sci.. 2017; 58(14):6020-6029. doi: https://doi.org/10.1167/iovs.17-21969

ARVO Annual Meeting Abstract September 2016

Transcorneal electrical stimulation in patients with primary open-angle glaucoma: A prospective long-term, case-series study.

Yuka Ota; Naoki Ozeki; Kenya Yuki; Daisuke Shiba; Itaru Kimura; Kazushige Tsunoda; Kei Shinoda; Hisao Ohde; Kazuo Tsubota

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2553. 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

Functional Analysis of RP1L1 R45W Mutant Responsible for Occult Macular Dystrophy

Daisuke Iejima; Kazushige Tsunoda; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):173. doi:

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

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene

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

Ethnicity of pathogenic variants in the ABCA4 gene: analysis of allele frequency in the general population

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

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

Internal limiting membrane peeling to prevent epiretinal membrane growth after retinal detachment repair: retinal surface wrinkling as a sign of proliferation

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)

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

Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy

Transcorneal electrical stimulation in patients with primary open-angle glaucoma: A prospective long-term, case-series study.

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

Functional Analysis of RP1L1 R45W Mutant Responsible for Occult Macular Dystrophy

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