Japan Eye Genetics Consortium (JEGC)

国立研究開発法人日本医療研究開発機構 (AMED)

2023年度 - 2025年度
難治性疾患実用化研究事業
難病のゲノム医療実現に向けた全ゲノム解析の実施基盤の構築と実践
課題管理番号: 23ek0109617h0002, 24ek0109617h0003
配分総額: 2,520,000,000円
研究開発代表者: 國土 典弘 (国立国際医療研究センター)
研究開発分担者: 岩田 岳 (国立病院機構東京医療センター)

2020年度 - 2022年度
難治性疾患実用化研究事業
難病のゲノム医療推進に向けた全ゲノム解析基盤に関する研究開発
課題管理番号: 20ek0109493h0001, 21ek0109493h0002, 22ek0109493h0003
配分総額: 2,850,800,000円
研究開発代表者: 國土 典弘 (国立国際医療研究センター)
研究開発分担者: 岩田 岳 (国立病院機構東京医療センター)

2017年度 - 2019年度
難治性疾患実用化研究事業
オミックス解析による遺伝性網脈絡膜疾患、家族性緑内障、先天性視神経萎縮症の病因・病態機序の解明
課題管理番号: 17ek0109282s0001, 18ek0109282h0002, 19ek0109282h0003
配分総額: 237,110,000円
研究開発代表者: 岩田 岳 (国立病院機構東京医療センター)

2014年度 - 2016年度
難治性疾患実用化研究事業 （AMED、厚生労働省）
遺伝性網脈絡膜疾患の生体試料の収集・管理・提供と病態解明
課題管理番号: 15ek0109072h0003, 16ek0109072h0003
研究課題番号: H26-委託-(難)-一般-087
配分総額: 223,890,000円
研究開発代表者: 岩田 岳 (国立病院機構 東京医療センター)

厚生労働省研究事業

2011年度 - 2013年度
難病・がん等の疾患分野の医療の実用化研究（難病関係研究分野）
次世代シークエンサーを用いたエクソーム配列解析による黄斑ジストロフィーの原因遺伝子と発症機序の解明
研究課題番号：H23-実用化-(難病)-一般-006
配分総額: 241,620,000円
研究代表者：岩田 岳（国立病院機構東京医療センター）

Suga A, Mizobuchi K, Inooka T, Yoshitake K, Minematsu N, Tsunoka K, Kuniyoshi K, Kawai Y, Omae Y, Tokunaga K, NCBN Controls WGS Consortium, Hayashi T, Ueno S, Iwata T. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD. Genetics in Medicine Open, 2024 March 2(15):101843. DOI:10.1016/j.gimo.2024.101843

Nakajima A, Kuniyoshi K, Iwahashi C, Mano F, Hayashi T, Kondo H, Mizobuchi K, Matsushita I, Suga A, Yoshitake K, Nakano T, Iwata T, Matsumoto C, Kusaka S. Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis.Front Med (Lausanne). 2023 Nov 16;10:1280564. doi: 10.3389/fmed.2023.1280564. eCollection 2023.PMID: 38034549

Matsushita I, Izumi H, Ueno S, Hayashi T, Fujinami K, Tsunoda K, Iwata T, Kiuchi Y, Kondo H. Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia.Genes (Basel). 2023 Jul 21;14(7):1483. doi: 10.3390/genes14071483.PMID: 37510387

Mizumoto K, Kato K, Fujinami K, Sugita T, Sugita I, Hattori A, Saitoh S, Ueno S, Tsunoda K, Iwata T, Kondo M. A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report. Medicine (Baltimore). 2022 Dec 16;101(50):e32161. doi: 10.1097/MD.0000000000032161.PMID: 36550847

Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Genetic characterization of 1,210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing. Hum Mutat. 2022 Oct 25. doi: 10.1002/humu.24492. Online ahead of print.PMID: 36284460

Pan Y, Suga A, Kimura I, Kimura C, Minegishi Y, Nakayama M, Yoshitake K, Iejima D, Minematsu N, Yamamoto M, Mabuchi F, Takamoto M, Shiga Y, Araie M, Kashiwagi K, Aihara M, Nakazawa T, Iwata T. METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma. J Clin Invest. 2022 Sep 13:e153589. doi: 10.1172/JCI153589. Online ahead of print.PMID: 36099048

Iwata T, Japan to Global Eye Genetics Consortium: Extending Research Collaboration for Inherited Eye Diseases. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):360-368. doi: 10.1097/APO.0000000000000535. Epub 2022 Jul 28.PMID: 35904986

Berry V, Fujinami K, Mochizuki K, Iwata T, Pontikos N, Quinlan RA, Michaelides M.　A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. Ophthalmic Genet. 2022 Jun 23:1-5. doi: 10.1080/13816810.2022.2090010. Online ahead of print.PMID: 357362093

Kayazawa T, Kuniyoshi K, Hatsukawa Y, Fujinami K, Yoshitake K, Tsunoda K, Shimojo H, Iwata T, Kusaka S. Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review. Ophthalmic Genet. 2022 Jun;43(3):400-408. doi: 10.1080/13816810.2021.2023195. Epub 2022 Jan 13. PMID: 35026968

Ahn SJ, Yang L, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Nakamura N, Iwata T, Kim MS, Mun Y, Park JY, Joo K, Park KH, Miyake Y, Sui R, Fujinami K, Woo SJ; East Asia Inherited Retinal Disease Society Study Group. Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):12. doi: 10.1167/iovs.63.1.12. PMID: 34994768

Oishi A, Fujinami K, Mawatari G, Naoi N, Ikeda Y, Ueno S, Kuniyoshi K, Hayashi T, Kondo H, Mizota A, Shinoda K, Kusuhara S, Nakamura M, Iwata T, Tsujikawa A, Tsunoda K. Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan. Genes (Basel). 2021 Nov 18;12(11):1817. doi: 10.3390/genes12111817. PMID: 34828423

Mizobuchi K, Hayashi T, Oishi N, Kubota D, Kameya S, Higasa K, Futami T, Kondo H, Hosono K, Kurata K, Hotta Y, Yoshitake K, Iwata T, Matsuura T, Nakano T. Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.J Clin Med. 2021 May 24;10(11):2265. doi: 10.3390/jcm10112265.PMID: 34073704

Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group. Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. Br J Ophthalmol. 2021 Apr 20:bjophthalmol-2020-318544. doi: 10.1136/bjophthalmol-2020-318544.

Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T. A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Doc Ophthalmol. 2021 Feb 21. doi: 10.1007/s10633-021-09826-y. Online ahead of print. PMID: 336117603

Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group. Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.Hum Genome Var. 2020 Feb 10;7(1):3. doi: 10.1038/s41439-019-0086-2.PMID: 33558473

Hayashi T, Kameya S, Mizobuchi K, Kubota D, Kikuchi S, Yoshitake K, Mizota A, Murakami A, Iwata T, Nakano T. Share Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.Sci Rep. 2020 Sep 28;10(1):15883. doi: 10.1038/s41598-020-72623-1.PMID: 32985515

Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium Study Group. RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):675-693. doi: 10.1002/ajmg.c.31830. Epub 2020 Sep 1. PMID: 328756844Cite

Liu X, Fujinami K, Kuniyoshi K, Kondo M, Ueno S, Hayashi T, Mochizuki K, Kameya S, Yang L, Fujinami-Yokokawa Y, Arno G, Pontikos N, Sakuramoto H, Kominami T, Terasaki H, Katagiri S, Mizobuchi K, Nakamura N, Yoshitake K, Miyake Y, Li S, Kurihara T, Tsubota K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder.Transl Vis Sci Technol. 2020 May 11;9(6):2. doi: 10.1167/tvst.9.6.2. eCollection 2020 May.PMID: 32821499

Fujinami K, Oishi A, Yang L, Arno G, Pontikos N, Yoshitake K, Fujinami-Yokokawa Y, Liu X, Hayashi T, Katagiri S, Mizobuchi K, Mizota A, Shinoda K, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Iwata T, Tsujikawa A, Tsunoda K; Japan Eye Genetics Consortium study group. Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.Am J Med Genet C Semin Med Genet. 2020 Aug 20:e31826. doi: 10.1002/ajmg.c.31826. Online ahead of print.PMID: 328205933

Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Pontikos N, Liu X, Nakamura N, Kurihara T, Tsubota K, Iwata T, Li H, Zou X, Wu S, Sun Z, Ahn SJ, Kim MS, Mun YS, Park KH, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K; East Asia Inherited Retinal Disease Society study group. Spatial Functional Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.2.Am J Ophthalmol. 2020 Jul 21:S0002-9394(20)30382-2. doi: 10.1016/j.ajo.2020.07.025. Online ahead of print.PMID: 32707201

Hirose A, Katagiri S, Hayashi T, Matsuura T, Nagai N, Fujinami K, Iwata T, Tsunoda K. Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).Doc Ophthalmol. 2020 Jul 9. doi: 10.1007/s10633-020-09782-z. Online ahead of print.PMID: 326480255

Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.Sci Rep. 2020 Jun 12;10(1):9531. doi: 10.1038/s41598-020-65737-z.PMID: 32533067

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.Mizobuchi K, Hayashi T, Yoshitake K, Fujinami K, Tachibana T, Tsunoda K, Iwata T, Nakano T.Mol Genet Genomic Med. 2020 Aug;8(8):e1308. doi: 10.1002/mgg3.1308. Epub 2020 May 22.PMID: 32441891 Free PMC article.

Katagiri S, Hayashi T, Nakamura M, Mizobuchi K, Gekka T, Komori S, Ueno S, Terasaki H, Sakuramoto H, Kuniyoshi K, Kusaka S, Nagashima R, Kondo M, Fujinami K, Tsunoda K, Matsuura T, Kondo H, Yoshitake K, Iwata T, Nakano T. RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):53. doi: 10.1167/iovs.61.3.53. PubMed PMID: 32232344.

Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3. PubMed PMID: 32218477; PubMed Central PMCID: PMC7099090.

Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Takamoto M, Aihara M, Iwata T, Hashimoto K, Sato K, Shiga Y, Nishiguchi KM, Nakazawa T, Akiyama M, Kawase K, Ozaki M, Araie M; Japan Glaucoma Society Omics Group (JGS-OG). Genetic variants associated with the onset and progression of primary open-angle glaucoma. Am J Ophthalmol. 2020 Mar 23. pii: S0002-9394(20)30114-8. doi: 10.1016/j.ajo.2020.03.014. [Epub ahead of print] PubMed PMID: 32217119.

Kuniyoshi K, Hayashi T, Kameya S, Katagiri S, Mizobuchi K, Tachibana T, Kubota D, Sakuramoto H, Tsunoda K, Fujinami K, Yoshitake K, Iwata T, Nakano T, Kusaka S. Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy. Int J Mol Sci. 2020 Feb 16;21(4). pii: E1331. doi: 10.3390/ijms21041331. PubMed PMID: 32079136; PubMed Central PMCID: PMC7072995.

Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group. Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. Hum Genome Var. 2020 Feb 10;7:3. doi: 10.1038/s41439-019-0086-2. eCollection 2020. PubMed PMID: 32047640; PubMed Central PMCID: PMC7008114.

Hayashi T, Katagiri S, Mizobuchi K, Yoshitake K, Kameya S, Matsuura T, Iwata T, Nakano T. Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy. Ophthalmic Genet. 2020 Feb 10:1-3. doi: 10.1080/13816810.2020.1723119. [Epub ahead of print] PubMed PMID: 32039647.

Li H, Yuan S, Minegishi Y, Suga A, Yoshitake K, Sheng X, Ye J, Smith S, Bunkoczi G, Yamamoto M, Iwata T. Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy. Hum Mol Genet. 2020 Jan 9. pii: ddz311. doi: 10.1093/hmg/ddz311. [Epub ahead of print] PubMed PMID: 31915829.

Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T. Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. Sci Rep. 2019 Nov 14;9(1):16851. doi: 10.1038/s41598-019-52660-1. PubMed PMID: 31728034.

Nakamura N, Tsunoda K, Mizuno Y, Usui T, Hatase T, Ueno S, Kuniyoshi K, Hayashi T, Katagiri S, Kondo M, Kameya S, Yoshitake K, Fujinami K, Iwata T, Miyake Y. Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4691-4700. doi: 10.1167/iovs.19-27486. PubMed PMID: 31725168.

Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S. Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family. Ophthalmic Genet. 2019 Nov 7:1-8. doi: 10.1080/13816810.2019.1686159. [Epub ahead of print] PubMed PMID: 31696758.

Maeda-Katahira A, Nakamura N, Hayashi T, Katagiri S, Shimizu S, Ohde H, Matsunaga T, Kaga K, Nakano T, Kameya S, Matsuura T, Fujinami K, Iwata T, Tsunoda K. Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort. Mol Vis. 2019 Oct 5;25:559-573. eCollection 2019. PubMed PMID: 31673222; PubMed Central PMCID: PMC6798706.

Mawatari G, Fujinami K, Liu X, Yang L, Yokokawa YF, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group. Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. Hum Genome Var. 2019 Aug 2;6:34. doi: 10.1038/s41439-019-0065-7. eCollection 2019. PubMed PMID: 31645972; PubMed Central PMCID: PMC6804603.

Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3432-3446. doi: 10.1167/iovs.19-26650. PubMed PMID: 31390656.

Tsunoda K, Fujinami K, Yoshitake K, Iwata T. Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. Doc Ophthalmol. 2019 Jul 8. doi: 10.1007/s10633-019-09705-7. [Epub ahead of print] PubMed PMID: 31286363.

Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K, Japan Eye Genetics Consortium OBO. Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques. J Ophthalmol. 2019 Apr 9;2019:1691064. doi: 10.1155/2019/1691064. eCollection 2019. PubMed PMID: 31093368; PubMed Central PMCID: PMC6481010.

Fujinami K, Yang L, Joo K, Tsunoda K, Kameya S, Hanazono G, Fujinami-Yokokawa Y, Arno G, Kondo M, Nakamura N, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Iwata T, Miyake Y, Woo SJ, Sui R; EAIRDs study group. Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.1. Ophthalmology. 2019 Apr 24. pii: S0161-6420(19)30138-1. doi: 10.1016/j.ophtha.2019.04.032. [Epub ahead of print] PubMed PMID: 31028767.

Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T. Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. Doc Ophthalmol. 2019 Jun;138(3):229-239. doi: 10.1007/s10633-019-09679-6. Epub 2019 Mar 15. PubMed PMID: 30877594.

Suzuki K, Gocho K, Akeo K, Kikuchi S, Kubota D, Katagiri S, Fujinami K, Tsunoda K, Iwata T, Yamaki K, Igarashi T, Nakano T, Takahashi H, Hayashi T, Kameya S. High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia. Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):76-85. doi: 10.3928/23258160-20190129-03. PubMed PMID: 30768214.

Kondo H, Oku K, Katagiri S, Hayashi T, Nakano T, Iwata A, Kuniyoshi K, Kusaka S, Hiyoshi A, Uchio E, Kondo M, Oishi N, Kameya S, Mizota A, Naoi N, Ueno S, Terasaki H, Morimoto T, Iwaki M, Yoshitake K, Iejima D, Fujinami K, Tsunoda K, Shinoda K, Iwata T. Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis. Hum Genome Var. 2019 Jan 8;6:3. doi: 10.1038/s41439-018-0034-6. eCollection 2019. PubMed PMID: 30652005; PubMed Central PMCID: PMC6325138.

Mizobuchi K, Katagiri S, Hayashi T, Yoshitake K, Fujinami K, Kuniyoshi K, Mishima R, Tsunoda K, Iwata T, Nakano T. Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X). Am J Ophthalmol Case Rep. 2018 Dec 19;13:110-115. doi: 10.1016/j.ajoc.2018.12.019. eCollection 2019 Mar. PubMed PMID: 30619975; PubMed Central PMCID: PMC6307093.

Ueno S, Inooka D, Meinert M, Ito Y, Tsunoda K, Fujinami K, Iwata T, Ohde H, Terasaki H. Three cases of acute-onset bilateral photophobia. Jpn J Ophthalmol. 2019 Mar;63(2):172-180. doi: 10.1007/s10384-018-00649-0. Epub 2019 Jan 2. PubMed PMID: 30604114.

Katagiri S, Hayashi T, Yoshitake K, Murai N, Matsui Z, Kubo H, Satoh H, Matsufuji S, Takamura T, Yokoo T, Omori Y, Furukawa T, Iwata T, Nakano T. Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome. Sci Rep. 2018 Nov
13;8(1):16733. doi: 10.1038/s41598-018-35152-6. PubMed PMID: 30425282; PubMed Central PMCID: PMC6233217.

Nakanishi A, Ueno S, Hayashi T, Katagiri S, Ito Y, Kominami T, Fujinami K, Tsunoda K, Iwata T, Terasaki H. CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. Retina. 2018 Oct 9. doi: 10.1097/IAE.0000000000002363. [Epub ahead of print] PubMed PMID: 30308565.

Inagaki S, Kawase K, Funato M, Seki J, Kawase C, Ohuchi K, Kameyama T, Ando S, Sato A, Morozumi W, Nakamura S, Shimazawa M, Iejima D, Iwata T, Yamamoto T, Kaneko H, Hara H. Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2293-2304. doi: 10.1167/iovs.17-22975. PubMed PMID: 29847634.

Kawamura Y, Suga A, Fujimaki T, Yoshitake K, Tsunoda K, Murakami A, Iwata T. LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells. J Hum Genet. 2018 Aug;63(8):893-900. doi: 10.1038/s10038-018-0465-4. Epub 2018 May 14. PubMed PMID:
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Xu X, Fang Y, Yokoi T, Shinohara K, Hirakata A, Iwata T, Tsunoda K, Jonas JB, Ohno-Matsui K. POSTERIOR STAPHYLOMAS IN EYES WITH RETINITIS PIGMENTOSA WITHOUT HIGH MYOPIA. Retina. 2018 Apr 26. doi: 10.1097/IAE.0000000000002180. [Epub ahead of print] PubMed PMID: 29708934.

Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y. Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018. PubMed PMID: 29681726; PubMed Central PMCID: PMC5893010.

Katagiri S, Hayashi T, Mizobuchi K, Yoshitake K, Iwata T, Nakano T. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly). Ophthalmic Genet. 2018 Jun;39(3):357-365. doi: 10.1080/13816810.2018.1459737. Epub 2018 Apr 9. PubMed PMID: 29630435.

Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. Ophthalmology. 2018 May;125(5):735-746. doi: 10.1016/j.ophtha.2017.11.020. Epub 2018 Jan 6. PubMed PMID: 29310964; PubMed Central PMCID: PMC5917070.

Kominami A, Ueno S, Kominami T, Nakanishi A, Ito Y, Fujinami K, Tsunoda K, Hayashi T, Kikuchi S, Kameya S, Iwata T, Terasaki H. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. Ophthalmic Genet. 2018 Apr;39(2):255-262. doi: 10.1080/13816810.2017.1408846. Epub 2017 Dec PubMed PMID: 29220607.

Kato Y, Hanazono G, Fujinami K, Hatase T, Kawamura Y, Iwata T, Miyake Y, Tsunoda K. Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6020-6029. doi: 10.1167/iovs.17-21969. PubMed PMID: 29196766.

Shinozaki Y, Kashiwagi K, Namekata K, Takeda A, Ohno N, Robaye B, Harada T, Iwata T, Koizumi S. Purinergic dysregulation causes hypertensive glaucoma-like optic neuropathy. JCI Insight. 2017 Oct 5;2(19). pii: 93456. doi: 10.1172/jci.insight.93456. PubMed PMID: 28978804; PubMed Central PMCID: PMC5841869.

Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal
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Hayashi T, Sasano H, Katagiri S, Tsunoda K, Kameya S, Nakazawa M, Iwata T, Tsuneoka H. Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy. Jpn J Ophthalmol. 2017 Sep;61(5):395-401. doi: 10.1007/s10384-017-0522-0. Epub 2017 Jul 1. PubMed PMID: 28668999.

Ueno S, Nakanishi A, Sayo A, Kominami T, Ito Y, Hayashi T, Tsunoda K, Iwata T, Terasaki H. Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. Doc Ophthalmol. 2017 Apr;134(2):141-147. doi: 10.1007/s10633-017-9577-y. Epub 2017 Feb 14. PubMed PMID: 28197754.

Shim MS, Takihara Y, Kim KY, Iwata T, Yue BY, Inatani M, Weinreb RN, Perkins GA, Ju WK. Corrigendum: Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration. Sci Rep. 2017 Jan 19;7:40460. doi: 10.1038/srep40460. PubMed PMID: 28102236; PubMed Central PMCID: PMC5244623.

Minegishi Y, Nakayama M, Iejima D, Kawase K, Iwata T. Significance of optineurin mutations in glaucoma and other diseases. Prog Retin Eye Res. 2016 Nov;55:149-181. doi: 10.1016/j.preteyeres.2016.08.002. Epub 2016 Sep 29. Review. PubMed PMID: 27693724.

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. Jpn J Ophthalmol. 2016 Nov;60(6):476-485. Epub 2016 Aug 13. PubMed PMID: 27522502.

Akiyama G, Matsumoto CS, Shinoda K, Terauchi G, Matsumoto H, Watanabe E, Iwata T, Mizota A, Miyake Y. Intraoperative electrophysiological evaluations of macular function during peripheral scleral indentation. Sci Rep. 2016 Oct 20;6:35164. doi: 10.1038/srep35164. PubMed PMID: 27762313; PubMed Central PMCID:
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Ueno S, Nakanishi A, Kominami T, Ito Y, Hayashi T, Yoshitake K, Kawamura Y, Tsunoda K, Iwata T, Terasaki H. In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. Jpn J Ophthalmol. 2016 Oct 7.

Minegishi Y, Nakayama M, Iejima D, Iwata T. Significance of Optineurin Mutations in Glaucoma and Other Diseases. Prog Ret Eye Res 2016 Sep 29. pii: S1350-9462(16)30061-1.

Shim MS, Takihara Y, Kim K-Y, Iwata T, Yue BYJT, Inatani M, Weinreb RN, Perkins GA, and Ju W-K. Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration. Sci Rep 2016 in press

Minegishi Y, Sheng X, Yoshitake K, Sergeev Y, Iejima D, Shibagaki Y, Monma N, Ikeo K, Furuno M, Zhuang W, Liu Y, Rong W, Hattori A, Iwata T. CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. Sci Rep 2016 in press

Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K. Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2016;57:4837-46

Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T. Identification of novel mutations in the LRR-cap domain of C21orf2 in Japanese patients with retinitis pigmentosa and cone-rod dystrophy. Invest Ophthalmol Vis Sci 2016;57:4255-4263

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. Jpn J Ophthalmol. 2016 Aug 13. [Epub ahead of print]

Yagura K, Shinoda K, Matsumoto S, Terauchi G, Kawashima M, Watanabe E, Matsumoto H, Iwata T, Mizota A, Miyake Y. Electroretinographic evaluations of retinal function before, just after, and after intravitreal injections. Sci Rep 2016 Aug 5;6:31104. doi: 10.1038/srep31104.

Nakanishi A, Ueno S, Hayashi T, Katagiri S, Kominami T, Ito Y, Gekka T, Masuda Y, Tsuneoka H, Shinoda K, Hirakata A, Inoue M, Fujinami K, Tsunoda K, Iwata T, Terasaki H. Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort. Am J Ophthalmol. 2016;S0002-9394:30198-2

Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Gerogiou G, Riazuddin SA, Ayyagari R. A missense mutation in the ASRGL1 gene is involved in causing autosomal recessive retinal degeneration. Hum Mol Genet. 2016

Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y. Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. Jpn J Ophthalmol. 2016;60:187-97

Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T. RPE65 mutations in two Japanese families with Leber congenital amaurosis. Ophthalmic Genetics 2016;37:161-169

Nakanishi A, Ueno S, Kawano K, Ito Y, Kominami T, Yasuda S, Kondo M, Tsunoda K, Iwata T, Terasaki H. Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2015;56:7243-9

Katagiri S, Hayashi T, Ohkuma Y, Sekiryu T, Takeuchi T, Gekka T, Kondo M, Iwata T, Tsuneoka H. Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy. Br J Ophthalmol. 2015;99:1577-82

Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T. Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). Ophthalmic Genet. 2015;36:137-44

Kato Y, Tsunoda K, Fujinami K, Iwata T, Saga M, Oguchi Y. Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease. Invest Ophthalmol Vis Sci. 2015;56:2162-72

Kuniyoshi K, Sakuramoto H, Yoshitake K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations. Doc Ophthalmol. 2015;131:71-9

Kuniyoshi K, Ikeo K, Sakuramoto H, Furuno M, Yoshitake K, Hatsukawa Y, Nakao A, Kusaka S, Shimomura Y, Iwata T. Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy Documenta Ophthalmologica. Documenta Ophthalmologica 2015;130:49-55

Katagiri S, Hayashi T, Akahori M, Itabashi T, Nishino J, Yoshitake K, Furuno M, Ikeo K, Okada T, Tsuneoka H and Iwata T. RHO mutations (p.W126L and p.A346P) in two Japanese families with autosomal dominant retinitis pigmentosa. Journal of Ophthalmology 2014;2014:210947. doi: 10.1155/2014/210947

Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T. Whole exome analysis identifies frequent CNGA1mutations in Japanese population with autosomal recessive retinitis pigmentosa. PLoS One 2014;9(9):e108721

Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T. Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. Ophthalmic Genetics 2014;12:1-8

Tanito M, Hara K, Akahori M, Harata A, Itabashi T, Takai Y, Kaidzu S, Ohira A, Iwata T. Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits. Acta Ophthalmologica 2014; Aug 12

Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/severe early childhood onset retinal dystrophy with RDH12 mutation. Documenta Ophthalmologica 2014;128:219-228

Katagiri S, Akahori M, Hayashi T, Yoshitake K, Gekka T, Ideo K, Tsuneoka H, Iwata T. Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene. Documenta Ophthalmologica 2014;128:211-2117

Katagiri S, Yoshitake K, Akahori M, Hayashi T, Furuno M, Nishino J, Ikeo K, Tsuneoka H, Iwata T. Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alstrom Syndrome. Molecular Vision 2013;19:2393-406

Sakuramoto H, Kuniyoshi K, Tsunoda K, Akahori M, Iwata T, Shimomura Y. Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration. Journal of Clinical Ophthalmology. 2013;7:1703-11

Nakamura N, Tsunoda K, Fujinami K, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Iwata T, Miyake Y. [Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram]. Nihon Ganka Gakkai Zasshi. 2013;117:629-40

Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Itabashi T, Iwata T, Ozawa Y, Tsubota K, Miyake Y. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. Molecular Vision 2013;19:1580-90

Minegishi Y, Iejima D, Kobayashi H, Chi Z-L, Kawase K, Yamamoto T, Seki T, Yuasa S, Fukuda K, Iwata T. Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma. Human Molecular Genetics 2013;22:3559-67

Chen CJ, Scholl HP, Birch DG, Iwata T. Miller NR, Goldberg MF. Characterizing the phenotype and genotype of a family with occult macular dystrophy. JAMA Ophthalmology 2012;130:1554-9

Kabuto T, Takahashi H, Goto-Fukuura Y, Igarashi T, Akahori M, Kameya S, Iwata T, Mizota A, Yamaki K, Miyake Y, Takahashi H. A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. Molecular Vision 2012;18:1031-9

Tsunoda K, Usui T, Hatase T, Yamai S, Fujinami K, Hanazono G, Shinoda K, Ohde H, Akahori M, Iwata T, Miyake Y. Clinical characteristics of occult macular dystrophy in a large family with mutation of RP1L1 gene. Retina 2012;32:1135-47

Hara K, Akahori M, Tanito M, Kaidzu S, Ohira A, Iwata T. Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion. Molecular Vision 2011;17:3309-13

Fujinami K, Akahori M, Fukui M, Tsunoda K, Iwata T, Miyake Y. Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene. Acta Ophthalmologica 2011;89(3):e297-8. doi: 10.1111/j.1755-3768.2009.01848.x