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ARVO Annual Meeting Abstract June 2022

East Asian Patients with Occult Macular Dystrophy Report No.4; Genotype-Phenotype Association

Yu Fujinami; Kwangsic Joo; Seong Joon Ahn; Kazushige Tsunoda; Mineo Kondo; Hui Li; Kyu Hyung Park; Izumi Naka; Jun Ohashi; Hisateru Tachimori; Hiraoki Miyata; Se Joon Woo; Ruifang Sui; Kaoru Fujinami

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):139 – A0319. doi:

ARVO Annual Meeting Abstract June 2022

Full-Field Scotopic Thresholds for Color Stimuli in Severe Patients with Retinitis Pigmentosa

Kaoru Fujinami; Yu Fujinami; Yasutaka Suzuki; Jeff Farmer; Kazushige Tsunoda

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):4062 – F0026. doi:

Retina January 2022

Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3

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Seong Joon Ahn; Lizhu Yang; Kazushige Tsunoda; Mineo Kondo; Yu Fujinami-Yokokawa; Natsuko Nakamura; Takeshi Iwata; Min Seok Kim; Yongseok Mun; Jun Young Park; Kwangsic Joo; Kyu Hyung Park; Yozo Miyake; Ruifang Sui; Kaoru Fujinami; Se Joon Woo; for the East Asia Inherited Retinal Disease Society Study Group
TAGS: asian, macular dystrophy, scotoma, scotoma, central, visual fields, eye, phenotype, visual field testing, disclosure, genetics
Invest. Ophthalmol. Vis. Sci.. 2022; 63(1):12. doi: https://doi.org/10.1167/iovs.63.1.12

Includes: Supplemental Content

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

Changes of Fixation Stability and Fixation Location over 24 Months in Stargardt Disease: the ProgStar Study

Etienne Schönbach; Rupert Strauss; Marco Cattaneo; David G Birch; Artur V Cideciyan; Janet S Sunness; Kaoru Fujinami; Eberhart Zrenner; Srinivas R Sadda; Hendrik P Scholl

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2167. 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

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

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

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

Yuri V Sergeev; Kaoru Fujinami; Benedetto Falsini; Wadih M Zein; Kerry Goetz; Yu Yokokawa Fujinami; Se Joon Woo; Shiying Li; Matteo Bertelli; Winston Lee; Jana Zernant; Rando Allikmets; Andrew Webster; Michel Michaelides; Brian Patrick Brooks; Paul A Sieving

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3872. 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 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:

Articles March 2019

Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease

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Preena Tanna; Michalis Georgiou; Rupert W. Strauss; Naser Ali; Neruban Kumaran; Angelos Kalitzeos; Kaoru Fujinami; Michel Michaelides
TAGS: child, follow-up, spectral domain-optical coherence tomography, stargardt's disease, eye, reliability
Trans. Vis. Sci. Tech.. 2019; 8(2):1. doi: https://doi.org/10.1167/tvst.8.2.1

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:

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East Asian Patients with Occult Macular Dystrophy Report No.4; Genotype-Phenotype Association

Full-Field Scotopic Thresholds for Color Stimuli in Severe Patients with Retinitis Pigmentosa

Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3

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

Changes of Fixation Stability and Fixation Location over 24 Months in Stargardt Disease: the ProgStar Study

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

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

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

Molecular modeling and global computational mutagenesis of ABCA4 protein show a role of missense changes in Stargardt’s disease.

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

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

Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease

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

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