Suga A, Minegishi Y, Yamamoto M, Ueda K, Iwata T. Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance. Commun Biol. 2024 Jun 3;7(1):676. doi: 10.1038/s42003-024-06384-2.PMID: 38830954

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

Pan Y, Iwata T. Exploring the Genetic Landscape of Childhood Glaucoma. Children (Basel). 2024 Apr 9;11(4):454. doi: 10.3390/children11040454. PMID: 38671671

Pan Y, Iwata T. Role of ARMS2/HTRA1 risk alleles in the pathogenesis of neovascular age-related macular degeneration. Taiwan J Ophthalmol. 2024 Feb. DOI: 10.4103/tjo.TJO-D-23-00152

Pan Y, Iwata T. Molecular genetics of inherited normal tension glaucoma. Indian J Ophthalmol. 2024 Feb 23. doi: 10.4103/IJO.IJO_3204_23. Online ahead of print.PMID: 38389252

Shiga Y, Hashimoto K, Fujita K, Maekawa S, Sato K, Kubo S, Kawase K, Tokumo K, Kiuchi Y, Mori S, Nakamura M, Iwata T, Nishiguchi KM, Nakazawa T. Identification of OPTN p.(Asn51Thr): a novel pathogenic variant in primary open-angle glaucoma. Genetics in Medicine Open, Jan 2024

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

Pan Y, Fu Y, Baird PN, Guymer RH, Das T, Iwata T. Exploring the contribution of ARMS2 and HTRA1 genetic risk factors in age-related macular degeneration.Prog Retin Eye Res. 2023 Nov;97:101159. doi: 10.1016/j.preteyeres.2022.101159. Epub 2022 Dec 28.PMID: 36581531

Raghavendran HRB, Kumaramanickavel G, Iwata T. Editorial: Personalized medicine-Where do we stand regarding bench to bedside translation? Front Med (Lausanne). 2023 Aug 14;10:1243896. doi: 10.3389/fmed.2023.1243896. eCollection 2023.PMID: 37644984

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

Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Yamagata Z, Takamoto M, Aihara M, Iwata T, Hashimoto K, Sato K, Shiga Y, Nakazawa T, Akiyama M, Kawase K, Ozaki M, Araie M. Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma. Sci Rep. 2022 Dec 1;12(1):20744. doi: 10.1038/s41598-022-24915-x.PMID: 36456827

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

Ahamed W, Yu RMC, Pan Y, Iwata T, Barathi VA, Wey YS, Tun SBB, Qiu B, Tan A, Wang X, Cheung CMG, Wong TY, Yanagi Y. HTRA1 Regulates Subclinical Inflammation and Activates Proangiogenic Response in the Retina and Choroid. Int J Mol Sci. 2022 Sep 6;23(18):10206. doi: 10.3390/ijms231810206. PMID: 36142120

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

Shimozawa N, Iwata T, Yasutomi Y. A controlled ovarian stimulation procedure suitable for cynomolgus macaques. Exp Anim. 2022 May 9. doi: 10.1538/expanim.21-0198. Online ahead of print.PMID: 35527012

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

Yamazawa K, Shimizu K, Ohashi H, Haruna H, Inoue S, Murakami H, Matsunaga T, Iwata T, Tsunoda K, Fujinami K. A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder. Hum Genome Var. 2021 Dec 17;8(1):46. doi: 10.1038/s41439-021-00178-2. PMID: 34921139

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.

Pan Y, Iejima D, Nakayama M, Suga A, Noda T, Kaur I, Das T, Chakrabarti S, Guymer RH, DeAngelis MM, Yamamoto M, Baird PN, Iwata T. Binding of Gtf2i-β/δ transcription factors to the ARMS2 gene leads to increased circulating HTRA1 in AMD patients and in vitro. J Biol Chem. 2021 Feb 23:100456. doi: 10.1016/j.jbc.2021.100456. Online ahead of print. PMID: 33636181

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

Owen LA, Shirer K, Collazo SA, Szczotka K, Baker S, Wood B, Carroll L, Haaland B, Iwata T, Katikaneni LD, DeAngelis MM. The Serine Protease HTRA-1 Is a Biomarker for ROP and Mediates Retinal Neovascularization. Front Mol Neurosci. 2020 Nov 17;13:605918. doi: 10.3389/fnmol.2020.605918. eCollection 2020. PMID: 33281553

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 Sep;184(3):656-674. doi: 0.1002/ajmg.c.31826. Epub 2020 Aug 20. PMID: 328205936Cite

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: 326480258Cite
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

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

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. 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

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. 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. PMID: 32079136

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.

Balikova I, Postelmans L, Pasteels B, Coquelet P, Catherine J, Efendic A, Hosoda Y, Miyake M, Yamashiro K; ANGEL study group members, Thienpont B, Lambrechts D; ANGEL study group members. Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration. BMJ Open Ophthalmol. 2019 Dec 17;4(1):e000273. doi: 10.1136/bmjophth-2019-000273. eCollection 2019. PubMed PMID: 31909188; PubMed Central PMCID: PMC6936450.

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.

Gan YJ, Fang AW, Liu C, Liu BJ, Yang FM, Guan JT, Lan CL, Dai XD, Li T, Cao Y, Ran Y, Gong XH, Jin ZB, Cui RZ, Iwata T, Qu J, Lu F, Chi ZL. Elevated Plasma Levels of Drebrin in Glaucoma Patients With Neurodegeneration. Front Neurosci. 2019 Apr 3;13:326. doi: 10.3389/fnins.2019.00326. eCollection 2019. PubMed PMID:31001081; PubMed Central PMCID: PMC6456690.

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.

須賀晶子、吉武和敏、岩田岳、オミックス解析による遺伝性網脈絡膜疾患の病因・病態機序の解明、臨床応用に向けた疾患シークエンス解析、（編集：松本直道、難波栄二、古川洋一）、遺伝子医学 MOOK34、メディカルデュ、2018

Gyan Prakash and Takeshi Iwata (Eds), Advances in Vision Research Volume II, Essentials in Ophthalmology, Springer Nature, 2018

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.

Shim MS, Kim KY, Noh M, Ko JY, Ahn S, An MA, Iwata T, Perkins GA, Weinreb RN, Ju WK. Optineurin E50K triggers BDNF deficiency-mediated mitochondrial dysfunction in retinal photoreceptor cell line. Biochem Biophys Res Commun. 2018 Sep 18;503(4):2690-2697. doi: 10.1016/j.bbrc.2018.08.025. Epub 2018 Aug 9. PubMed PMID: 30100066; PubMed Central PMCID: PMC6133749.

Muraoka Y, Iida Y, Ikeda HO, Iwai S, Hata M, Iwata T, Nakayama M, Shimozawa N, Katakai Y, Kakizuka A, Yoshimura N, Tsujikawa A. KUS121, an ATP regulator, mitigates chorioretinal pathologies in animal models of age-related macular degeneration. Heliyon. 2018 May 14;4(5):e00624. doi:10.1016/j.heliyon.2018.e00624. eCollection 2018 May. PubMed PMID: 29872758;PubMed Central PMCID: PMC5986307.

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:29760528.

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.

Prakashi G, Iwata T. Asian Eye Genetics (AEGC), Guest Editorial, Indian Journal of Ophthalmology 2018

Shiga Y, Akiyama M, Nishiguchi KM, Sato K, Shimozawa N, Takahashi A, Momozawa Y, Hirata M, Matsuda K, Yamaji T, Iwasaki M, Tsugane S, Oze I, Mikami H, Naito M, Wakai K, Yoshikawa M, Miyake M, Yamashiro K; Japan Glaucoma Society Omics Group (JGS-OG), Kashiwagi K, Iwata T, Mabuchi F, Takamoto M, Ozaki M, Kawase K, Aihara M, Araie M, Yamamoto T, Kiuchi Y, Nakamura M, Ikeda Y, Sonoda KH, Ishibashi T, Nitta K, Iwase A, Shirato S, Oka Y, Satoh M, Sasaki M, Fuse N, Suzuki Y, Cheng CY, Khor CC, Baskaran M, Perera S, Aung T, Vithana EN, Cooke Bailey JN, Kang JH, Pasquale LR, Haines JL; NEIGHBORHOOD Consortium, Wiggs JL, Burdon KP, Gharahkhani P, Hewitt AW, Mackey DA, MacGregor S, Craig JE, Allingham RR, Hauser M, Ashaye A, Budenz DL, Akafo S, Williams SEI, Kamatani Y, Nakazawa T, Kubo M. Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. Hum Mol Genet. 2018 Apr 15;27(8):1486-1496. doi: 10.1093/hmg/ddy053. PubMed PMID: 29452408; PubMed Central PMCID: PMC6251544.

Uno Y, Osada N, Sakurai S, Shimozawa N, Iwata T, Ikeo K. Development of genotyping method for functionally relavant variants of cytochromes P450 in cynomogus macaques. Journal of Veterinary Pharmacology and Therapeutics. 2018;41:e30-e34. DOI: 10.1111/jvp.12443

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 Jan 5. pii:S0161-6420(17)32533-2. doi: 10.1016/j.ophtha.2017.11.020. [Epub ahead of print] PubMed PMID: 29310964.

Shiga Y, Nishiguchi KM, Kawai Y, Kojima K, Sato K, Fujita K, Takahashi M, Omodaka K, Araie M, Kashiwagi K, Aihara M, Iwata T, Mabuchi F, Takamoto M, Ozaki M, Kawase K, Fuse N, Yamamoto M, Yasuda J, Nagasaki M, Nakazawa T; Japan Glaucoma Society Omics Group (JGS-OG). Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7. PLoS One. 2017 Dec 20;12(12):e0186678. doi: 10.1371/journal.pone.0186678. eCollection 2017. PubMed PMID: 29261660.

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. 2017 Dec 8:1-8. doi: 10.1080/13816810.2017.1408846. [Epub ahead of print] 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.

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.

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 Dystrophy Consortium. Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Hum Mutat. 2017 Oct 2.

Mabuchi F, Mabuchi N, Takamoto M, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Aihara M, Iwata T, Araie M. Japan Glaucoma Society Omics Group (JGS-OG). Genetic Variant Near PLXDC2 Influences the Risk of Primary Open-angle Glaucoma by Increasing Intraocular Pressure in the Japanese Population. J Glaucoma. 2017 Sep 19.

Yamashiro K, Mori K, Honda S, Kano M, Yanagi Y, Obana A, Sakurada Y, Sato T, Nagai Y, Hikichi T, Kataoka Y, Hara C, Koyama Y, Koizumi H, Yoshikawa M, Miyake M, Nakata I, Tsuchihashi T, Horie-Inoue K, Matsumiya W, Ogasawara M, Obata R, Yoneyama S, Matsumoto H, Ohnaka M, Kitamei H, Sayanagi K, Ooto S, Tamura H, Oishi A, Kabasawa S, Ueyama K, Miki A, Kondo N, Bessho H, Saito M, Takahashi H, Tan X, Azuma K, Kikushima W, Mukai R, Ohira A, Gomi F, Miyata K, Takahashi K, Kishi S, Iijima H, Sekiryu T, Iida T, Awata T, Inoue S, Yamada R, Matsuda F, Tsujikawa A, Negi A, Yoneya S, Iwata T, Yoshimura N. A prospective multicenter study on genome wide associations to ranibizumab treatment outcome for age-related macular degeneration. Sci Rep. 2017;7:9196.

Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Takamoto M, Aihara M, Iwata T, Kawase K, Shiga Y, Nishiguchi KM, Nakazawa T, Ozaki M, Araie M; Japan Glaucoma Society Omics Group (JGS-OG). Additive effects of genetic variants associated with intraocular pressure in primary open-angle glaucoma. PLoS One. 2017;12(8):e0183709.

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 Jul 1. doi: 10.1007/s10384-017-0522-0.

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.

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. 2017 Jan 19;7:40460.

Takeshi Iwata. Japan Eye Genetics Consortium (JEGC) for Hereditary Retinal Diseases, Advances in Vision Research Volume I, Essentials in Ophthalmology, Springer, 2017;1:9-20.

Gyan Prakash, Takeshi Iwata. Foundation of Asian Eye Genetics Consortium (AEGC), Advances in Vision Research Volume I, Essentials in Ophthalmology, Springer, 2017;1:1-8.

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.

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;S1350-9462(16)30061-1.

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;6:33742.

Iwata T. Establishment of the Indian Chapter for Asian Eye Genetics Consortium. Indian J Ophthalmol. 2016;64:484

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

Iejima D, Nakayama M, Iwata T, HTRA1 Overexpression Induces the Exudative Form of Age-Related Macular Degeneration. Age-Related Macular Degeneration. J Stem Cells 2015;10:193-203

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

Iwata T. Author Response: Postnatal Overexpression of the Human ARMS2 Gene Does Not Induce Abnormalities in Retina and Choroid in Transgenic Mouse Models. Invest Ophthalmol Vis Sci. 2015; 56:1389

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

Iejima D, Itabashi T, Kawamura Y, Noda T, Yuasa S, Fukuda K, Oka C, Iwata T. High-Temperature Requirement A Serine Peptidase 1 Gene is Transcriptionally Regulated by Insertion/Deletion Nucleotides Located at the 3 Prime End of Age-Related Maculopathy Susceptibility 2 Gene in Patients with Age-Related Macular Degeneration. The Journal of Biological Chemistry 2015;290:2784-97

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

Gallenberger M, Kroeber M, Koch M, März L, Fuchshofer R, Iwata T, Braunger BM, Tamm ER. Heterozygote Wdr36-deficient mice do not develop glaucoma. Experimental Eye Research 2014;128:83-91

Nakayama M, Iejima D, Akahori M, Kamei J, Goto A, Iwata T. Overexpression of Htra1 and exposure to mainstream cigarette smoke leads to choroidal neovascularization and subretinal deposits in aged mice. Investigative Ophthalmology and Visual Science 2014;55:6514-6523

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

Matsumoto CS, Shinoda K, Matsumoto H, Funada H, Sasaki K, Minoda H, Iwata T, Mizota A. Pattern visually evoked potentials elicited by organic electro-luminescence screen. BioMed Research International 2014:606951

Matsumoto CS, Nakagomi R, Matsumoto H, Minoda H, Shinoda K, Iwata T, Mizota A. Binocular interaction of visually evoked cortical potentials elicited by dichoptic binocular stimulation Journal of Vision 2014;14(11). pii4

Matsumoto CS, Shinoda K, Matsumoto H, Seki K, Nagasaka E, Iwata T, Mizota A. What monitor can replace cathode ray tube for visual stimulation to elicit multifocal electroretinograms? Journal of Vision 2014;14(9) pii:2

Kobayashi H, Okamoto H, Murakami A, Iwata T. Plasma Proteome Analysis On Cynomolgus Monkey (Macaca fascicularis) Pedigrees With Early Onset Drusen Formation. Journal of Experimental Animals 2014;63:305-310　

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

Ohkuma Y, Hayashi T, Sakai T, Watanabe A, Yamada H, Akahori M, Itabashi T, Iwata T, Noda T, Tsuneoka H.: Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients. Journal of Clinical Ophthalmology 2014;8:143-8

Iwata T, Animal Models for Eye Diseases, Handbook of Laboratory Animal Science III, (Editor: Hau J and Schapiro SJ) CRC Press 2014;195-217

赤堀正和、岩田岳、黄斑ジストロフィー、特集　ゲノムと網膜関連疾患の関与を探る（編集：山城健児）、RETINA Medicine、先端医学社 2014;3:33-37

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

岩田岳、日米の眼研究の架け橋　Jin H. Kinoshita先生を偲んで　（編集：堀田喜裕）、あたらしい眼科、メディカル葵出版　2013;30:1417-8

岩田岳、古野正朗、池尾一穂、全エクソーム解析による遺伝性網脈絡膜疾患の原因遺伝子探索、エクソーム解析　‐成果と将来‐　（編集：松本直道）、医学のあゆみ、医歯薬出版株式会社 2013;245:401-407

岩田岳、眼疾患をきたす遺伝子変化、第１１７回日眼評議員会指名講演：「眼疾患と遺伝子」をより理解するために、日本の眼科、公益社団法人日本眼科医会　2013;84:265-269

岩田岳、Optineurinと正常眼圧緑内障、Digestシリーズ　（編集：本庶佑）、Medical Science Digest、ニューサイエンス社 2013;39:2-4

岩田岳、緑内障の遺伝子とその機能解析、緑内障の病態と疫学、高齢者の視覚障害とそのケア（編集：小口芳久）、公益財団法人長寿科学振興財団、2013;107-118

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

Thakkinstian A, McEvoy M, McKay GJ, Chakravarthy U, Chakrabati S, Kaur I, Silvetri G, Francis P, Iwata T, Akahori M, Farwick A, Euijung R, Edward A, Seddon JM, Attia J. The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: A HuGE review and meta-analysis. American Journal of Epedemiology 2012;176:361-372

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

Jin ZB, Okamoto S, Osakada F, Homma K, Assawachananont J, Hirami Y, Iwata T, Takahashi M. Modeling retinal degeneration using patient-specific induced pluripotent stem cells. PLoS One 2011;6(2):e17084

岩田岳、眼科と補体、補体への招待、メディカルビュー社 2011;189-193

岩田岳、視力・色覚を司る黄斑の生理機能と黄斑変性の分子メカニズム、視覚・聴覚のNeuroscience、実験医学、羊土社　2011;29:526-532

Shen X, Ying H, Qiu Y, Park J-S, Shyam R, Chi Z-L, Iwata T, Yue BYJT. Processing of optineurin in neuronal cells. The Journal of Biological Chemistry 2011;286:3618-29

Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Hatase T, Nakamua M, Ohde H, Itabashi T, Okamoto H, Takada Y, and Iwata T. Dominant mutations in RP1L1 gene are responsible for occult macular dystrophy. The American Journal of Human Genetics 2010;87:424-429

Chi Z-L, Yoshida T, Lambris JD, and Iwata T. Suppression of drusen formation by compstatin, a peptide inhibitor of complement C3 activation, on Cynomolgus monkey with early-onset macular degeneration. Currrent Topics on Complement and Eye Disease, Advances in Experimental Medicine and Biology 2010;703:127-135

Chi Z-L, Yasumoto F, Sergeev Y, Minami M, Obazawa M, Kimura I, Takada Y, and Iwata T. Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice. Human Molecular Genetics 2010;19:3806-3815

Chi Z-L, Akahori, A, Obazawa M, Minami M, Noda T, Nakaya N, Tomarev S, Kawase K, Yamamoto T, Noda S, Sasaoka M, Shimazaki A, Takada Y, and Iwata T. Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice. Human Molecular Genetics 2010;19:2605-2615

Okamoto H, Umeda S, Nozawa T, Suzuki MT, Yoshikawa Y, Matsuura ET, and Iwata T. Comparative proteomic analyses of macular versus peripheral retina in Cynomogus monkeys (Macaca fascicularis). Experimental Animal 2010;59:171-178

Fujikawa K, Iwata T, Inoue K, Akahori M, Kadotani H, Fukaya M, Watanabe M, Chang Q, Barnett EM, and Swat W. Vav2 and Vav3 as candidate disease gene for spontaneous glaucoma in mice and human. PLoS One 2010;5:e9050

Goto A, Akahori A, Okamoto H, Minami M, Terauchi N, Haruhata Y, Obazawa M, Noda T, Honda M, Mizota A, Tanaka M, Hayashi T, Tanito M, Ogata N, and Iwata T. Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population. Journal of Ocular Biology, Disease, and Informatics 2009;2:164-175

岩田岳、緑内障遺伝子改変動物の基礎、眼薬理　2009;23:67-70

岩田岳、眼疾患バイオマーカーの探索、医療　2008;62:512-515

Tanito M, Minami M, Akahori M, Kaidzu S, Takai Y, Ohira A, and Iwata T. LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract. Molecular Vision 2008;14:1898-1905

Kaidzu S, Tanito M, Ohira A, Umeda S, Suzuki M, Yoshikawa Y, and Iwata T. Immunohistochemical analysis of aldehyde-modified proteins in drusen in cynomolgus monkeys (Macaca fascicularis). Experimental Eye Research 2008;86:856-859

岩田岳、緑内障の動物モデル（２）－マウスモデル、その他－、あたらしい眼科、株式会社メディカル葵出版 2007;24:1049

岩田岳、緑内障の動物モデル（１）－霊長類モデル、ラットモデル－、あたらしい眼科、株式会社メディカル葵出版 2007;24:909
　
Iwata T. Complement Activation of Drusen in Primate Model (Macaca fascicularis) for Age-Related Macular Degeneration. Currrent Topics in Innate Immunity, Advances in Experimental Medicine and Biology, Springer 2007;251-259

Iwata T. and Tomarev S. Animal Models for Eye Diseases and Therapeutics, Source Book of Biomedical Research, Humana Press Inc. 2007;279-287

岩田岳、網膜・硝子体のプロテオーム解析、日本の眼科、公益社団法人日本眼科医会 2007;78:577-582

Yoshida T, Wan AD, Zhang H, Sakamoto R, Okamoto H, Minami M, Obazawa M, Mizota A, Tanaka M, Saito Y, Takagi I, Hoh J, and Iwata T. HTRA1 Promoter Polymorphism Predisposes Japanese to AMD. Molecular Vision 2007;13:545-548

Shibuya M, Okamoto H, Nozawa T, Utsumi J, Reddy VN, Echizen H, Tanaka Y, and Iwata T. Proteomic & Transcriptomic Analyses of Retinal Pigment Epithelial Cells Exposed to REF-1/TFPI-2, a Growth Promoting Factor. Investigative Ophthalmology and Visual Science 2007;48:516-521

岩田岳、我が国の先端的眼科研究の立場から　－失明を防ぐための多面的なアプローチ－、バイオサイエンスとインダストリー 2006;64:625-629

岩田岳、加齢黄斑変性の遺伝子研究の最前線、特集：網膜脈絡膜変性疾患のアップデート、あたらしい眼科、株式会社メディカル葵出版 2006;23:1125-1131

Darmanin C, Iwata T, Carper DA and El-Kabbani O. Discovery of potential sorbitol dehydrogenase inhibitors from virtual screening. Journal of Medical Chemistry 2006;59:558-560

Okamoto H, Umeda S, Obazawa M, Minami M, Noda T, Mizota A, Honda M, Tanaka M, Koyama R, Takagi I, Sakamoto Y, Saito Y, Miyake Y, and Iwata T. Complement Factor H Polymorphisms in Japanese Population with Age-Related Macular Degeneration. Molecular Vision 2006;12:156-158

Hejtmancik JF, Kantorow M, and Iwata T. Models of Age Related Vision Problems, Handbook of Models for Human Aging. Academic Press, Elsevier Inc. 2006;812-828

Izumi K, Kurosaka D, Iwata T, Oguchi Y, Tanaka Y, Mashima Y, and Tsubota K. Involvement of Insulin-like Growth Factor-I and Insulin-like Growth Factor Binding Protein-3 in Corneal Fibroblasts during Corneal Wound Healing. Investive Ophthalmology and Visual Science 2006;47:591-598

岩田岳、遺伝子解析の現状、またその行方は？　打倒！加齢黄斑変性、眼科インストラクションコース株式会社メディカルビュ - 2005;20-23

Umeda S, Suzuki MT , Okamoto H, Ono F, Mizota A, Terao K, Yoshikawa Y, Tanaka Y, and Iwata T. Molecular composition of drusen and possible involvement of anti-retinal autoimmunity in two different forms of macular degeneration in cynomolgus monkey (Macaca fascicularis). FASEB Journal 2005;19:1683-1685

Umeda S, Ayyagari R, Allikmets R, Suzuki MT, Karoukis AJ, Ambasudhan R, Zernant J, Okamoto H, Ono F, Terao K, Atsushi M, Yoshikawa Y, Tanaka Y, and Iwata T. Early onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree caused by a novel gene mutation. Investive Ophthalmology and Visual Science 2005;46:683-691

岩田岳、真島行彦、インベーダー法を用いた緑内障の遺伝子解析」 Bio Medical Quick Review Net 記事番号 4001 http://www.medicaldo.co.jp/application_r.html 株式会社メディカルデゥ　2004

Funayama T, Ishikawa K, Ohtake Y, Tanino T, Kurosaka D, Kimura I, Sohma K, Suzuki K, Ideta H, Nakamoto K, Yasuda N, Fujimaki T, Murakami A, Asaoka R, Hotta Y, Kimura A, Tanihara H, Kanemoto T, Mishima H, Fukuchi T, Abe H, Iwata T, Oguchi Y, Kudoh J, Shimizu N, and Mashima Y. Variants in Optineurin Gene and their Association with Tumor Necrosis Factor-alpha (-857C>T) Polymorphisms in Japanese Patients with Glaucoma. Investigative Ophthalmology and Visual Science 2004;45:4359-4367

Ishikawa K, Funayama T, Ohtake Y, Tanino T, Kurosaka D, Suzuki K, Ideta H, Fujimaki T, Tanihara H, Asaoka R, Naoi N, Yasuda N, Iwata T, and Mashima Y. Novel MYOC Gene Mutation, Phe369Leu, in Japanese Patients with Primary Open-Angle Glaucoma Detected by Denaturing High-Performance Liquid Chromatography. Journal of Glaucoma 2004;13:466-471

Niizeki H, Matsunaga T, Iwata T, Shimizu T, Kurimoto I, Naruse T, Inoko H, Streilein J W. The MICA5.1 allele is not associated with susceptibility to effects of ultraviolet-B radiation on induction of contact hypersensitivity. Journal of Dermatology Science 2004;35:221-223

Obazawa M, Mashima Y, Sanuki N, Noda S, Kudoh J, Shimizu N, Tanaka Y, and Iwata T. Comparable Analysis of Porcine Optineurin and Myocilin Expression in Trabecular Meshwork Cells and Astrocytes from Optic Nerve Head. Investigative Ophthalmology and Visual Science 2004;45:2652-2659

Tanaka Y, Utsumi J, Matsui M, Sudo T, Nakamura N, Mutoh M, Kajita A, Sone S, Kigasawa K, Shibuya M, Reddy VN, Zhang Q, and Iwata T. Purification, Molecular Cloning, and Expression of a Novel Growth Promotive Factor for Retinal Pigment Epithelial Cells, REF-1/TFPI-2. Investigative Ophthalmology Visual Science 2004;45:245-252

岩田岳、渋谷昌彦、ＲＥＦ－１の機能解析： Applied Biosystems 1700 ケミルミネッセントマイクロアレイアナライザを用いた網膜色素上皮細胞増殖因子 REF-1 の機能解析　バイオビート http://www.appliedbiosystems.co.jp/website/jp/biobeat/top.jsp 日本アプライドバイオシステムズ株式会社 2004

Izumi K, Mashima Y, Obazawa M, Ohtake Y, Tanino T, Miyata H, Tanaka Y, and Iwata T. Variants of Myocilin Gene in Japanese Patients With Normal Tension Glaucoma. Ophthalmic Research 2003;35:345-350

Zhang Q, Mashima Y, Noda S, Imamura Y, Kudoh J, Shimizu N, Nishiyama T, Umeda S, Tanaka Y, and Iwata T. Characterization of AOC2 Gene Encoding a Copper-binding Amine Oxidase Expressed Specifically in Retina. Gene 2003;318:45-53

Umeda S, Suzuki MT, Yoshikawa Y, Iwata F, Fujiki K, Kanai A, Sanuki N, Tanaka Y, and Iwata T. Cloning and Characterization of ELVLO4 Gene in Cynomolgus (Macaca fascicularis) Monkey. Experimental Animal 2003;52:(2)

Darmanin C, Iwata T, Carper DA, Sparrow LG, Chung R P-T and El-Kabbani O. Expression, purification and preliminary crystallographic analysis of human sorbitol dehydrogenase. Acta Crystallographica 2003;D59:558-560