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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

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 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 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

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:

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

Japan Whole Exome Project for Inherited Retinal Disease

Kaoru Fujinami; Takaaki Hayashi; Kazuki Kuniyoshi; Mineo Kondo; Shinji Ueno; Kei shinoda; Kazuo Tsubota; Yozo Miyake; Kazushige Tsunoda; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1247. doi:

ARVO Annual Meeting Abstract April 2014

A Case of Occult Macular Dystrophy with Foveal Detachment by Vitreomacular Traction

Yu Kato; Kaoru Fujinami; Toru Noda; Masakazu Akahori; Takeshi Iwata; Yozo Miyake; Kazushige Tsunoda

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):5879. doi:

ARVO Annual Meeting Abstract March 2012

Two New Mutations in RP1L1 Gene in Occult Macular Dystrophy Patients Associated with a Depolarizing Pattern of Focal Macular ERG

Shuhei Kameya; Takenori Kabuto; Hisatomo Takahashi; Yoko Goto-Fukuura; Tsutomu Igarashi; Kunihiko Yamaki; Atsushi Mizota; Yozo Miyake; Hiroshi Takahashi

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5692. doi:

Article March 2012

Stiles–Crawford effect in focal macular ERGs from macaque monkey

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Celso Soiti Matsumoto; Kei Shinoda; Harue Matsumoto; Shingo Satofuka; Atsushi Mizota; Kazuo Nakatsuka; Yozo Miyake
TAGS: cercopithecidae, macaca, pupil, incidence, wave - physical agent, eye
Journal of Vision. 2012; 12(3):6. doi: https://doi.org/10.1167/12.3.6

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

Dominant Mutations In RP1L1 Are Responsible For Occult Macular Dystrophy

Masakazu Akahori; Kazushige Tsunoda; Yozo Miyake; Shoji Tsuji; Tomoaki Usui; Makoto Nakamura; Hisao Ohde; Takeshi Itabashi; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5385. doi:

ARVO Annual Meeting Abstract April 2011

Optical Coherent Tomography (OCT) Findings In Occult Macular Dystrophy (OMD) With RP1L1 Mutation

Kazushige Tsunoda; Tetsuhisa Hatase; Tomoaki Usui; Kaoru Fujinami; Yozo Miyake

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2211. doi:

ARVO Annual Meeting Abstract April 2011

Microperimetry Shows Protection of Central Vision in Retinitis Pigmentosa Patients treated with UF-021: a Phase 2 Study (JapicCTI-090748)

Shuichi Yamamoto; Takeshi Sugawara; Mitsuru Nakazawa; Shigeki Machida; Akira Murakami; Nobuhisa Nao-i; Yuko Wada; Yozo Miyake; Yukihiko Mashima

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):4992. doi:

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

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

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

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

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

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

Japan Whole Exome Project for Inherited Retinal Disease

A Case of Occult Macular Dystrophy with Foveal Detachment by Vitreomacular Traction

Two New Mutations in RP1L1 Gene in Occult Macular Dystrophy Patients Associated with a Depolarizing Pattern of Focal Macular ERG

Stiles–Crawford effect in focal macular ERGs from macaque monkey

Dominant Mutations In RP1L1 Are Responsible For Occult Macular Dystrophy

Optical Coherent Tomography (OCT) Findings In Occult Macular Dystrophy (OMD) With RP1L1 Mutation

Microperimetry Shows Protection of Central Vision in Retinitis Pigmentosa Patients treated with UF-021: a Phase 2 Study (JapicCTI-090748)

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