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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

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

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:

Glaucoma May 2018

Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma

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Satoshi Inagaki; Kazuhide Kawase; Michinori Funato; Junko Seki; Chizuru Kawase; Kazuki Ohuchi; Tsubasa Kameyama; Shiori Ando; Arisu Sato; Wataru Morozumi; Shinsuke Nakamura; Masamitsu Shimazawa; Daisuke Iejima; Takeshi Iwata; Tetsuya Yamamoto; Hideo Kaneko; Hideaki Hara
TAGS: timolol, glaucoma, stem cells, pluripotent, optn gene
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2293-2304. doi: 10.1167/iovs.17-22975

Includes: Supplemental Content

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: mutation, family, photoreceptors, eye, macular dystrophy, parafoveal region
Invest. Ophthalmol. Vis. Sci.. 2017; 58(14):6020-6029. doi: 10.1167/iovs.17-21969

ARVO Annual Meeting Abstract June 2017

International networks in eye disease - the Asian Eye Genetics Consortium (AEGC)

Takeshi Iwata; Gyan Prakash; Paul N Baird; S Natarajan

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2751. doi:

ARVO Annual Meeting Abstract June 2017

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

Brian Rossmiller; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4469. doi:

ARVO Annual Meeting Abstract June 2017

Mutations in the X-linked gene PRPS1 cause retinal degeneration in females

Alessia Fiorentino; Gavin Arno; Nikolas Pontikos; Kaoru Fujinami; Takaaki Hayashi; Vincent Plagnol; Michael E Cheetham; Takeshi Iwata; Andrew R Webster; Michel Michaelides; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1243. 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:

ARVO Annual Meeting Abstract June 2017

Function analysis of HTRA1 regulatory element in Patients with Exudative Age-Related Macular Degeneration

Daisuke Iejima; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2271. doi:

ARVO Annual Meeting Abstract June 2017

Characterization of Optineurin E50K knock-in mouse model with normal tension glaucoma and evaluation of TBK1 inhibitor Amlexanox

Mao Nakayama; Yuriko Minegishi; Daisuke Iejima; Takeshi Iwata

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5623. 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:

ARVO Annual Meeting Abstract September 2016

Diminished density of cone photoreceptors in fovea of eyes with autosomal recessive bestrophinopathy

Ayami Nakanishi; Shinji Ueno; Taro Kominami; Yasuki Ito; Takaaki Hayashi; Satoshi Katagiri; Takeshi Iwata; Hiroko Terasaki

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5107. 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: phenotype, cohort studies, family, genes, genotype, photoreceptors, retinal diseases, macular dystrophy, japanese, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):4837-4846. doi: 10.1167/iovs.16-19670

Includes: Supplemental Content

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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

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

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

Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma

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

International networks in eye disease - the Asian Eye Genetics Consortium (AEGC)

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

Mutations in the X-linked gene PRPS1 cause retinal degeneration in females

Characterization and Genetic Analysis of Cynomolgus Monkeys with Hereditary Macular Drusen

Function analysis of HTRA1 regulatory element in Patients with Exudative Age-Related Macular Degeneration

Characterization of Optineurin E50K knock-in mouse model with normal tension glaucoma and evaluation of TBK1 inhibitor Amlexanox

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

Functional Analysis of RP1L1 R45W Mutant Responsible for Occult Macular Dystrophy

Diminished density of cone photoreceptors in fovea of eyes with autosomal recessive bestrophinopathy

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

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