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2022年

  • Tsunoda K, Hanazono G. Detailed analyses of microstructure of photoreceptor layer at different severities of occult macular dystrophy by ultrahigh-resolution SD-OCT.　Am J Ophthalmol Case Rep. 2022 Mar 17;26:101490. doi: 10.1016/j.ajoc.2022.101490. eCollection 2022 Jun. PMID: 35321252
  • Tsunoda K, Hanazono G. Microstructural changes of photoreceptor layers detected by ultrahigh-resolution SD-OCT in patients with autosomal recessive bestrophinopathy. Am J Ophthalmol Case Rep. 2022 Sep 24;28:101706. doi: 10.1016/j.ajoc.2022.101706. eCollection 2022 Dec. PMID: 36187441
  • 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 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. PMID: 36284460 Impact factor: 4.7
  • Keitaro Mizumoto, Kumiko Kato, Kaoru Fujinami, Tadasu Sugita, Iichiro Sugita, Ayako Hattori, Shinji Saitoh, Shinji Ueno, Kazushige Tsunoda, Takeshi Iwata, Mineo Kondo 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 Impact factor: 1.817
  • 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.§Co-corresponding authorsVisual 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. Impact factor: 4.925 Pubmed create date: 2022/1/7
  • 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.Impact factor: 1.274 Pubmed create date: 2022/1/13
  • Berry V*, Fujinami K*, Mochizuki K, Iwata T, Pontikos N, Quinlan RA, Michaelides M. *Co-first authors. A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.Ophthalmic Genet. 2022 Oct;43(5):622-626. doi: 10.1080/13816810.2022.2090010. Impact factor: 1.274 Pubmed create date: 2022/1/13
  • Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M. CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.Am J Ophthalmol. 2023 Feb;246:107-121. doi: 10.1016/j.ajo.2022.09.002.Impact factor: 5.488 Pubmed create date: 2022/09/12
  • Strauss RW, Ho A, Jha A, Fujinami K, Michaelides M, Cideciyan AV, Audo I, Birch DG, Sadda S, Ip M, West S, Schönbach EM, Kong X, Scholl HPN; Progstar Study Group.Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17).Am J Ophthalmol. 2023 Feb 9;250:157-170. doi: 10.1016/j.ajo.2023.02.003.Impact factor: 5.488 Pubmed create date: 2023/02/08
  • Onyango O, Mureithi M, Kithinji D, Jaoko W, Fujinami K.Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review. J Pers Med. 2023 Jan 29;13(2):239. doi: 10.3390/jpm13020239. iiiImpact factor: 3.508 Pubmed create date: 2023/01/29
  • Kondo M, Fujinami K, Horiguchi M; Local Organizers of ISCEV in Kyoto 2023. 60th annual symposium of the international society for clinical electrophysiology of vision (ISCEV 2023 Kyoto).Doc Ophthalmol. 2023 Mar;146(Suppl 1):1-2. doi: 10.1007/s10633-023-09926-x.Impact factor: 1.854 Pubmed create date: 2023/03/01
  • Nguyen Q, Woof W, Kabiri N, Sen S, Daich Varela M, Cabral De Guimaraes TA, Shah M, Sumodhee D, Moghul I, Al-Khuzaei S, Liu Y, Hollyhead C, Tailor B, Lobo L, Veal C, Archer S, Furman J, Arno G, Gomes M, Fujinami K, Madhusudhan S, Mahroo OA, Webster AR, Balaskas K, Downes SM, Michaelides M, Pontikos N; Eye2Gene Patient Advisory Group.Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ Open. 2023 Mar 20;13(3):e071043. doi: 10.1136/bmjopen-2022-071043. Impact factor: 1.854
    Pubmed create date: 2023/03/20
  • Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M. X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.Ophthalmology. 2022 May;129(5):542-551. doi: 10.1016/j.ophtha.2021.11.019. Impact factor: 14.277 Pubmed create date: 021/11/22
  • Schönbach EM, Strauss RW, Cattaneo MEGV, Fujinami K, Birch DG, Cideciyan AV, Sunness JS, Zrenner E, Sadda SR, Scholl HPN; ProgStar Study Group.Longitudinal Changes of Fixation Stability and Location Within 24 Months in Stargardt Disease: ProgStar Report No. 16.Am J Ophthalmol. 2022 an;233:78-89. doi: 10.1016/j.ajo.2021.07.013. Impact factor: 5.488 Pubmed create date: 2021/06/20
  • Kusuhara S, Shimura M, Kitano S, Sugimoto M, Muramatsu D, Fukushima H, Takamura Y, Matsumoto M, Kokado M, Kogo J, Sasaki M, et al., Japan Clinical Retina Study (J-CREST) group. Treatment of diabetic macular edema in real-world clinical practice: The effect of aging J Diabetes Investig. 2022 Aug; 13(8):1339-1346. IF 4.232, h-index 55
  • Yasukawa T, Sasaki M, Motomura K, Yuki K, Kurihara T, Tomita Y, Mori K, Ozawa N, Ozawa Y, Yamagishi K, Hanyuda A, Sawada N, Tsubota K, Tsugane S, Iso H. Association Between Fatty Acid Intakes and Age-Related Macular Degeneration in a Japanese Population: JPHC-NEXT Eye Study. Transl Vis Sci Technol. 2023 Jan 3;12(1):3. IF 3.283, h-index 27 First and corresponding
  • Sasaki M, Kawasaki R, Yanagi Y. Early Stages of Age-Related Macular egeneration: Racial/Ethnic Differences and Proposal of a New Classification Incorporating Emerging Concept of Choroidal Pathology. J Clin Med. 2022 Oct 25;11(21):6274. IF 4.964, h-index 75 First and corresponding
  • Yasukawa T, Hanyuda A, Yamagishi K, Yuki K, Uchino M, Ozawa Y, Sasaki M, Tsubota K, Sawada N, Negishi K, Tsugane S, Iso H. Relationship between blood pressure and intraocular pressure in the JPHC-NEXT eye study. Sci Rep. 2022 Oct 19;12(1):17493. IF 4.996, h-index 212

2021年

  • 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. *Corresponding author.
    Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. Br J Ophthalmol. 2021 Sep;105(9):1272-1279. Epub 2021 Apr 20.
  • 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.*Co-corresponding authors
    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.
  • Georgiou M*, Finocchio L*, Fujinami K*, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M. *Co-first authors　
    X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization.　Ophthalmology. 2021 Nov 23:S0161-6420(21)00911-8
  • 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. *Co-first authors
    Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan. Genes (Basel). 2021 Nov 18;12(11):1817.
  • Yamada Y§, Fujinami K*§, Eguchi T, Takefuji H, Mori N. *§Co-first/corresponding authors.
    Multisystem Inflammatory Syndrome in Adults after Mild SARS-CoV-2 Infection, Japan.Emerg Infect Dis. 2021 Jun;27(6):1740-1742. Epub 2021 Apr 6
  • Yamazawa K*, Shimizu K, Ohashi H, Haruna H, Inoue S, Murakami H, Matsunaga T, Iwata T, Tsunoda K, Fujinami K*. *Co-corresponding authors
    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.
  • Akiyama K, Fujinami K, Watanabe K, Matsuki T, Tsunoda K, Noda T.　
    RETINAL SURFACE WRINKLING AS AN INDICATOR FOR INTERNAL LIMITING MEMBRANE PEELING DURING VITRECTOMY FOR RETINAL DETACHMENT. Retina. 2021 Aug 1;41(8):1618-1626.
  • Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M.KCNV2-Associated Retinopathy:
    Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. Am J Ophthalmol. 2021 Oct;230:1-11.Epub 2021 Mar 15
  • Schönbach EM, Strauss RW, Cattaneo MEGV, Fujinami K, Birch DG, Cideciyan AV, Sunness JS, Zrenner E, Sadda SR, Scholl HPN; ProgStar Study Group.
    Longitudinal Changes of Fixation Stability and Location Within 24 Months in Stargardt Disease: ProgStar Report No. 16.Am J Ophthalmol. 2022 Jan;233:78-89. Epub 2021 Jul 21.
  • Georgiou M, Fujinami K, Michaelides M
    .Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. Epub 2021 Mar 20.
  • Maile H, Li JO, Gore D, Leucci M, Mulholland P, Hau S, Szabo A, Moghul I, Balaskas K, Fujinami K, Hysi P, Davidson A, Liskova P, Hardcastle A, Tuft S, Pontikos N.Machine
    Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review.JMIR Med Inform. 2021 Dec 13;9(12):e27363. 5.428
  • Schönbach EM, Janeschitz-Kriegl L, Strauss RW, Cattaneo MEGV, Fujinami K, Birch DG, Cideciyan AV, Sunness JS, Weleber RG, Ip MS, Sadda SR, Scholl HPN; ProgStar Study Group.
    The Progression of Stargardt Disease Using Volumetric Hill of Vision Analyses Over 24 Months: ProgStar Report No.15.Am J Ophthalmol. 2021 Oct;230:123-133. Epub 2021 May 2.
  • 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 Jan 13:1-9. Online ahead of print.
  • Murakami Y, Koyanagi Y, Fukushima M, Yoshimura M, Fujiwara K, Akiyama M, Momozawa Y, Ueno S, Terasaki H, Oishi A, Miyata M, Ikeda H, Tsujikawa A, Mizobuchi K, Hayashi T, Fujinami K, Tsunoda K, Park JY, Han J, Kim M, Lee CS, Kim SJ, Park TK, Joo K, Woo SJ, Ikeda Y, Sonoda KH.
    Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.Ophthalmol Retina. 2021 Dec;5(12):1269-1279. Epub 2021 Feb 23.
  • Ozawa H, Ueno S, Ohno-Tanaka A, Sakai T, Hashiguchi M, Shimizu M, Fujinami K, Ahn SJ, Kondo M, Browning DJ, Shinoda K, Yokogawa N.
    Ocular findings in Japanese patients with hydroxychloroquine retinopathy developing within 3 years of treatment. Jpn J Ophthalmol. 2021 Jul;65(4):472-481.Epub 2021 May 20.
  • Akiyama K, Fujinami K, Watanabe K, Fukui M, Tsunoda K, Noda T.
    VALIDITY AND EFFICACY OF INTERNAL LIMITING MEMBRANE PEELING DURING INITIAL VITRECTOMY FOR RHEGMATOGENOUS RETINAL DETACHMENT: VISUAL OUTCOMES IN MACULA-SPARING CASES.Retin Cases Brief Rep. 2021 Mar 1;15(2):114-119.
  • Natsuko Nakamura, Megumi Honjo, Reiko Yamagishi, Makoto Kurano, Yutaka Yatomi 4, Sumiko Watanabe, Makoto Aihara
    Neuroprotective role of sphingolipid rheostat in excitotoxic retinal ganglion cell death Exp Eye Res. 2021 Jul;208:108623. doi: 10.1016/j.exer.2021.108623. Epub 2021 May 19.
  • Natsuko Nakamura, Megumi Honjo, Reiko Yamagishi, Nozomi Igarashi, Rei Sakata, Makoto Aihara
    Effects of selective EP2 receptor agonist, omidenepag, on trabecular meshwork cells, Schlemm’s canal endothelial cells and ciliary muscle contraction Sci Rep. 2021 Aug 10;11(1):16257. doi: 10.1038/s41598-021-95768-z.
  • Natsuko Nakamura, Reiko Yamagishi, Megumi Honjo, Nozomi Igarashi, Shota Shimizu, Makoto Aihara
    Effects of topical TGF-β1, TGF-β2, ATX, and LPA on IOP elevation and regulation of the conventional aqueous humor outflow pathway Mol Vis. 2021 Jan 20;27:61-77. eCollection 2021.
  • Kazushige Tsunoda and Gen Hanazono
    Detailed analyses of microstructure of photoreceptor layer at different severities of occult macular dystrophy by ultrahigh-resolution SD-OCT American Journal of Ophthalmology Case Reports 26 (2022) 101490 Available online 17 March 2022
  • Sasaki M, Miyagawa N, Harada S, Tsubota K, Takebayashi T, Nishiwaki Y, Kawasaki R.
    Dietary Patterns and Their Associations with Intermediate Age-Related Macular Degeneration in a Japanese Population
    J. Clin. Med. 2022, 11(6), 1617.DOI: 10.1016/j.ophtha.2021.11.022

2020年

  • 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　184(3):656 – 674 2020 Sep
  • 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　184(3):675 – 693 2020 Sep
  • Liu X, Meng X, Yang L, Long Y, Fujinami-Yokokawa Y, Ren J, Kurihara T, Tsubota K, Tsunoda K, Fujinami K, Li S; East Asia Inherited Retinal Disease Society Study Group. Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1. Am J Med Genet C Semin Med Genet.　184(3):694 – 707 2020 Sep
  • 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.　221:169 – 180 2021 Jan　
  • 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　12;10(1): 9531 2020 Jun
  • 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　26;10(1): 5497 2020 Mar
  • 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 Prediction of Causative Genes in Inherited Retinal Disorder from Fundus Photography and Autofluorescence Imaging Utilizing Deep Learning Techniques. Br J Ophthalmol. In press 2021
  • 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. 11;9(6):2 2020 May
  • Liu X, Gao L, Wang G, Long Y, Ren J, Fujinami K, Meng X, Li S. Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up. Doc Ophthalmol.　141(3):217 – 226 2020 Dec
  • Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genet Med. 22(7):1235 – 1246 2020 Jul
  • Runhart EH, Khan M, Cornelis SS, Roosing S, Del Pozo-Valero M, Lamey TM, Liskova P, Roberts L, Stöhr H, Klaver CCW, Hoyng CB, Cremers FPM, Dhaenens CM; ABCA4 Disease Consortium Study Group (Fujinami K et al. Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. JAMA Ophthalmol. 1;138(10):1035 – 1042 2020 Oct
  • 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　16;21(4):1331 2020 Feb
  • Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF. New variants and in silico analyses in GRK1 associated Oguchi disease. Hum Mutat　42(2):164 – 176 2021 Feb;
  • Bouzia Z, Georgiou M, Hull S, Robson AG, Fujinami K, Rotsos T, Pontikos N, Arno G, Webster AR, Hardcastle AJ, Fiorentino A, Michaelides M. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. Am J Ophthalmol　210:59 – 70 2020 Feb
  • Georgiou M, Kane T, Tanna P, Bouzia Z, Singh N, Kalitzeos A, Strauss RW, Fujinami K, Michaelides M. Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry Am J Ophthalmol　211:159 – 175 2020 Mar
  • Schönbach EM, Strauss RW, Ibrahim MA, Janes JL, Birch DG, Cideciyan AV, Sunness JS, Muñoz B, Ip MS, Sadda SR, Scholl HPN; ProgStar Study Group (Fujinami K et al.). Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14. Am J Ophthalmol　216:219 – 225  2020 Aug;
  • Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K Webster AR, Michaelides M. Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History. Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History. Am J Ophthalmol　221:299 – 310 2021 Jan　
  • Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Carmen A, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M. KCNV2-associated Retinopathy:Detailed Retinal Phenotype and Structural Endpoints – KCNV2 Study Group Report 2. Am J Ophthalmol　15:S0002-9394(21)00117 – 3 2021 Mar
  • Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Carmen A, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M. KCNV2-Associated Retinopathy:Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. Am J Ophthalmol　11;225:95 – 107 2020 Dec
  • Pontikos N, Murphy C, Moghul I, Arno G, Fujinami K, Fujinami Y, Sumodhee D, Downes S, Webster A, Yu J; UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium. Phenogenon: Gene to phenotype associations for rare genetic diseases PLoS One　9;15(4):e0230587 2020 Apr
  • 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.　40(1):181 – 186 2020 Jan
  • Berry V, Georgiou M, Fujinami K, Quinlan R, Moore A, Michaelides M. Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches. Br J Ophthalmol　104(10):1331 – 1337 2020 Oct;
  • 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　9;61(3):53　2020 Mar
  • Nakamura N, Tsunoda K, Mitsutake A, Shibata S, Mano T, Nagashima Y, Ishiura H, Iwata A, Toda T, Tsuji S, Sawamura H. Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene. Invest Ophthalmol Vis Sci　1;61(11):27 2020 Sep
  • Sun Z, Yang L, Li H, Zou X, Wang L, Wu S, Zhu T, Wei X, Zhong Y, Sui R. Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort. Exp Eye Res　202:108389 2021 Jan
  • Georgiou M, Fujinami K, Michaelides M. Inherited retinal diseases: Therapeutics, clinical trials and end-points – A review. Clin Exp Ophthalmol　Apr;49(3):270 – 288 2021 Mar 8.
  • 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　8(8):e1308 2020 Aug
  • Kita Y, Holló G, Saito T, Momota Y, Kita R, Tsunoda K, Hirakata A.　 RETeval Portable Electroretinogram Parameters in Different Severity Stages of Glaucoma. J Glaucoma　29(7):572 – 580 2020 Jul
  • Hirakata T, Fujinami K, Saito W, Kanda A, Hirakata A, Ishida S, Murakami A, Tsunoda K, Miyake Y. Acute unilateral inner retinal dysfunction with photophobia: importance of electrodiagnosis. Jpn J Ophthalmol　65(1):42 – 53 2021 Jan
  • Ozawa H, Ueno S, Ohno-Tanaka A, Sakai T, Hashiguchi M, Shimizu M, Fujinami K, Ahn SJ, Kondo M, Browning DJ, Shinoda K, Yokogawa N. Ocular findings in Japanese patients with hydroxychloroquine retinopathy developing within three years of treatment. Jpn J Ophthalmol. 2021 Jul;65(4):472-481.
  • Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S Long-term follow-up of a Chinese patient with KCNV2-retinopathy. Ophthalmic Genet　29:1-6　2020 Dec
  • 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　142(1):87 – 98 2021 Feb
  • Murakami Y, Koyanagi Y, Fukushima M, Yoshimura M, Fujiwara K, Akiyama M, Momozawa Y, Ueno S, Terasaki H, Oishi A, Miyata M, Ikeda H, Tsujikawa A, Mizobuchi K, Hayashi T, Fujinami K, Tsunoda K, Park JY, Han J, Kim M, Lee CS, Kim SJ, Park TK, Joo K, Woo SJ, Ikeda Y, Sonoda KH. Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients. Ophthalmol Retina 23:S2468-6530(21)00063 – 4 2021 Feb
  • Akiyama K, Fujinami K, Watanabe K, Fukui M, Tsunoda K, Noda VALIDITY AND EFFICACY OF INTERNAL LIMITING MEMBRANE PEELING DURING INITIAL VITRECTOMY FOR RHEGMATOGENOUS RETINAL DETACHMENT: VISUAL OUTCOMES IN MACULA-SPARING CASES. Retin Cases Brief Rep　1;15(2):114 – 119 2021 Mar
  • 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　10;7:3　2020 Feb
  • Li SY, Fujinami K, Crewther SG, Long YL, Lie HX, Yin ZQ. Fish oil supplementation and repeated macular hemorrhage without choroidal neovascularization: A case report. SAGE Open Med Case Rep　15;8:2050313X20952974 2020 Sep
  • Akiyama K, Fujinami K, Watanabe K, Matsuki T, Tsunoda K, Noda T Retinal Surface Wrinkling as an Indicator for Internal Limiting Membrane Peeling during Vitrectomy for Retinnal Detachment RETINA In press Accepted 2021 Jan
  • Tachikawa T, Ueno R, Mita T, Yuzurihara D, Katsumi O, Noda T, Saito M Refractive state and visual acuity of children with extremely low birthweight at 3 years old in Japan Jpn J Ophthalmol　64(5):539 – 548 2020 Sep
  • Goto S, Maeda N Corneal tomography for selecting intraocular lens in refractive cataract surgery Ophthalmology. 19:S0161-420(20)31108-8, 2020.
  • Goto S, Maeda N, Noda T, Ohnuma K, Iehisa I, Koh S, Nishida K Comparison of composite and segmental methods for acquiring optical axial length with swept-source optical coherence tomography. Scientific Reports. 10(1):4474, 2020
  • Goto S, Maeda N, Noda T, Ohnuma K, Iehisa I, Koh S, Nishida K Change in optical axial length after cataract surgery: segmental method versus composite method. J Cataract Refract Surg. 46:710–715, 2020
  • Oshika T, Negishi K, Noda T, Arai H, Inamura M, Inoue Y, Miyoshi T, Fujita Y, Miyata K, Hasegawa Y Prospective assessment of plate-haptic rotationally asymmetric multifocal toric intraocular lens with near addition of + 1.5 diopters. BMC Ophthalmology 20:454, 2020
  • Uchida A, Sasaki M, Motomura K, Yuki K, Kurihara T, Tomita Y, Ozawa Y, Yamagishi K, Kawasaki R, Hanyuda A, Sawada N, Tsubota K, Tsugane S, Iso H. Relationship between nerve fiber layer defect and the presence of epiretinal membrane in a Japanese population: The JPHC-NEXT Eye Study. Sci Rep. 2020 Jan 21;10(1):779.
  • Sasaki M, Harada S, Tsubota K, Yasukawa T, Takebayashi T, Nishiwaki Y, Kawasaki R. Dietary Saturated Fatty Acid Intake and Early Age-Related Macular Degeneration in a Japanese Population. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):23.
  • Hyungtaek Rim T, Ryo K, Tham YC, Kang SW, Ruamviboonsuk P, Bikbov MM, Miyake M, Hao J, Fletcher A, Sasaki M, Nangia V, Sabanayagam C, Yu M, Fujiwara K, Thapa R, Wong IY, Kayama T, Chen SJ, Kuang TM, Yamashita H, Sundaresan P, Chan JC, van Rens GHMB, Sonoda KH, Wang YX, Panda-Jonas S, Harada S, Kim R, Ganesan S, Raman R, Yamashiro K, Gilmanshin TR, Jenchitr W, Park KH, Gemmy Cheung CM, Wong TY, Wang N, Jonas JB, Chakravarthy U, Cheng CY, Yanagi Y, Saenmee A, Cao K, George R, Kazakbaeva GM, Khalimov TA, Khanna RC, Kim HW, Kulothungan V, Nangia P, Mao F, Matsuda F, Meng Q, Namba H, Pokawattana N, Oh J, Park SJ, Ravindran R, Sharma T, Shin JP, Surya J, Takahashi A, Takebayashi T, Tsujikawa A, Vashist P, Wei WB, Yang X, Yu SY, Zainullin RM, Zhao PQ. Prevalence and Pattern of Geographic Atrophy in Asia: the Asian Eye Epidemiology Consortium. Ophthalmology. 2020 Oct;127(10):1371-1381. Epub 2020 Apr 25.
  • Shimura M, Kitano S, Muramatsu D, Fukushima H, Takamura Y, Matsumoto M, Kokado M, Kogo J, Sasaki M, Morizane Y, Utsumi T, Koto T, Sonoda S, Hirano T, Ishikawa H, Mitamura Y, Okamoto F, Kinoshita T, Kimura K, Sugimoto M, Yamashiro K, Suzuki Y, Hikichi T, Washio N, Sato T, Ohkoshi K, Tsujinaka H, Kusuhara S, Kondo M, Takagi H, Murata T, Sakamoto T; Japan Clinical Retina Study (J-CREST) group. Real-world management of treatment-naïve diabetic macular oedema: 2-year visual outcome focusing on the starting year of intervention from STREAT-DMO study. Br J Ophthalmol. 2020 Dec;104(12):1755-1761. Epub 2020 Mar 13.
  • Shimura M, Kitano S, Muramatsu D, Fukushima H, Takamura Y, Matsumoto M, Kokado M, Kogo J, Sasaki M, Morizane Y, Kotake O, Koto T, Sonoda S, Hirano T, Ishikawa H, Mitamura Y, Okamoto F, Kinoshita T, Kimura K, Sugimoto M, Yamashiro K, Suzuki Y, Hikichi T, Washio N, Sato T, Ohkoshi K, Tsujinaka H, Kusuhara S, Kondo M, Takagi H, Murata T, Sakamoto T; Japan Clinical Retina Study (J-CREST) group. Real-world management of treatment-naïve diabetic macular oedema in Japan: two-year visual outcomes with and without anti-VEGF therapy in the STREAT-DME study. Br J Ophthalmol. 2020 Sep;104(9):1209-1215. Epub 2019 Nov 29.
  • Sasaki M, Miyake M, Fujiwara K, Nanba H, Akiyama M, Yanagi Y, Harada S, Tabara Y, Yasuda M, Yamashita H, Kayama T, Tsubota K, Matsuda F, Hashimoto S, Ueda E, Ninomiya T, Takebayashi T, Tsujikawa A, Sonoda KH, Kawasaki R. Cohort Profile: The Ganka-Ekigaku Network (GEN), a Network of Japanese Ophthalmological Epidemiology Studies. Ophthalmic Epidemiol. 2021 Jun;28(3):237-243. Epub 2020 Sep 13.
  • Sasaki M, Ito Y, Yamasaki T, Yanagi Y, Gemmy Cheung CM, Motomura K, Kawakami S, Kinoshita T, Yuki K, Hanyuda A, Mimura M, Sawada N, Tsugane S, Tsubota K. Association of Choroidal Thickness with Intermediate Age-Related Macular Degeneration in a Japanese Population. Ophthalmol Retina. 2021 Jun;5(6):528-535. Epub 2020 Sep 5.
  • [ 総説 ] Georgiou M, Fujinami K, Michaelides M. Retinal Imaging in Inherited Retinal Diseases. Annals of Eye Science. 2020;5:25.

2019年

  • AkiyamaK, Watanabe K, Fukui M, Higuchi H, Noda T.
    Quantitative evaluation of digital-image enhancement during heads-up surgery
    Scientific reports, 2019 Nov; 9(1): 15931
  • Yu Fujinami-Yokokawa, Nikolas Pontikos, Lizhu Yang, Kazushige Tsunoda, Kazutoshi Yoshitake, Takeshi Iwata, Hiroaki Miyata, Kaoru Fujinami and Japan Eye Gen etics Consortium
    Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-domain Optical Coherent Tomography Utilizing Deep Learning Techniques’
    Journal of Ophthalmology,2019 Apr 9:1691064.
  • 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; East Asia Inherited Retinal Disease Society study group.
    Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.
    Ophthalmology. 2019 Oct;126(10):1432-1444
  • Akiko Maeda-Katahira, Natsuko Nakamura, Takaaki Hayashi, Satoshi Katagiri, Satoko Shimizu, Hisao Ohde, Tatsuo Matsunaga, Kimitaka Kaga, Tadashi Nakano, Shuhei Kameya, Tomokazu Matsuura, Kaoru Fujinami, Takeshi Iwata, Kazushige Tsunoda
    Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort
    Molecular Vision, 2019; 25:559-573
  • Ryutaro Yamanishi, Natsuko Nakamura, Kazushige Tsunoda,
    Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome
    Case Rep Ophthalmol 2019;10:186-194
  • 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
  • Kazushige Tsunoda, Kaoru Fujinami. Kazutoshi Yoshitake. Takeshi Iwata
    Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration
    Doc Ophthalmol 2019; Dec;139(3):171-184.
  • Shuhei Kameya, Kaoru Fujinami, Shinji Ueno, Takaaki Hayashi, Kazuki Kuniyoshi, Ryuichi Ideta, Sachiko Kikuchi, Daiki Kubota, Kazutoshi Yoshitake, Satoshi Katagiri, Hiroyuki Sakuramoto, Taro Kominami, Hiroko Terasaki, Lizhu Yang, Yu Fujinami-Yokokawa, Xiao Liu, Gavin Arno, Nikolas Pontikos, Yozo Miyake, Takeshi Iwata, and Kazushige Tsunoda; for the Japan Eye Genetics Consortium
    Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance
    IOVS, 2019 Aug ; 60 (10):3432 – 3446
  • Go Mawatari, Kaoru Fujinami, Xiao Liu, Lizhu Yang, Yu-Fujinami Yokokawa, Shiori Komori, Shinji Ueno, Hiroko Terasaki, Satoshi Katagiri, Takaaki Hayashi, Kazuki Kuniyoshi, Yozo Miyake, Kazushige Tsunoda, Kazutoshi Yoshitake, Takeshi Iwata and Nobuhisa Nao-i1, on behalf of the JEGC study group
    Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants
    Human Genome Variation,2019 6 :34
  • Katagiri S, Hayashi T, Nakamura M, Mizobushi K, Gekka T, Komori S, Terasaki H, Sakamoto 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. 61(3), 53 2020 Mar 9
  • Lizhu Yang, Kaoru Fujinami, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Mineo Kondo, Atsushi Mizota, Nobuhisa Naoi, Kei Shinoda, Shuhei Kameya, Yu Fujinami-Yokokawa, Xiao Liu , Gavin Arno, Nikolas Pontikos, Taro Kominami, Hiroko Terasaki, Hiroyuki Sakuramoto, Satoshi Katagiri, Kei Mizobuchi, Natsuko Nakamura, Go Mawatari, Toshihide Kurihara, Kazuo Tsubota , Yozo Miyake, Kazutoshi Yoshitake, Takeshi Iwata, Kazushige Tsunoda, 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 10 (1), 5497 2020 Mar 26
  • Kazuki Kuniyoshi, Takaaki Hayashi, Shuhei Kameya, Satoshi Katagiri, Kei Mizobuchi, Toshiaki Tachibana, Daiki Kubota, Hiroyuki Sakuramoto, Kazushige Tsunoda, Kaoru Fujinami, Kazutoshi Yoshitake, Takeshi Iwata, Tadashi Nakano, Shunji Kusaka
    Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy
    Int J Mol Sci, 21 (4) 2020 Feb 16
  • 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. 2020 Jan;40(1):181-186
  • Kei Mizobuchi, Takaaki Hayashi, Satoshi Katagiri, Kazutoshi Yoshitake, Kaoru Fujinami, Lizhu Yang, Kazuki Kuniyosh, Kei Shinoda, Shigeki Machida, Mineo Kondo, Shinji Ueno, Hiroko Terasaki, Tomokazu Matsuura, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
    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.
  • Shuhei Kameya, Kaoru Fujinami, Shinji Ueno, Takaaki Hayashi, Kazuki Kuniyoshi, Ryuichi Ideta, Sachiko Kikuchi, Daiki Kubota, Kazutoshi Yoshitake, Satoshi Katagiri, Hiroyuki Sakuramoto, Taro Kominami, Hiroko Terasaki, Lizhu Yang , Yu Fujinami-Yokokawa, Xiao Liu, Gavin Arno, Nikolas Pontikos, Yozo Miyake, Takeshi Iwata, Kazushige Tsunoda, Japan Eye Genetics Consortium
    Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance
    Vis Sci. 2019 Aug 1;60(10):3432 – 3446
  • Kaoru Fujinami, Rupert W Strauss, John Pei-Wen Chiang, Isabelle S Audo, Paul S Bernstein, David G Birch, Samantha M Bomotti, Artur V Cideciyan, Ann-Margret Ervin, Meghan J Marino, José-Alain Sahel,Saddek Mohand-Said, Janet S Sunness, Elias I Traboulsi Sheila West Robert Wojciechowski Eberhart Zrenner Michel Michaelides Hendrik P N Scholl ProgStar Study Group ProgStar Study Group
    Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
    Br J Ophthalmol. 2019 Mar;103(3):390-397.
  • Shinji Ueno, Daiki Inooka, Monika Meinert, Yasuki Ito, Kazushige Tsunoda, Kaoru Fujinami, Takeshi Iwata, Hisao Ohde, Hiroko Terasaki Three cases of acute-onset bilateral photophobia.
    Jpn J Ophthalmol. 2019 Mar;63(2):172-180.
  • Zaina Bouzia, Michalis Georgiou, Sarah Hull, Anthony G Robson, Kaoru Fujinami, Tryfon Rotsos, Nikolas Pontikos, Gavin Arno, Andrew R Webster, Alison J Hardcastle, Alessia Fiorentino, Michel Michaelides
    GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
    Am J Ophthalmol. 2020 Feb;210:59-70.
  • Michalis Georgiou, Thomas Kane, Preena Tanna, Zaina Bouzia, Navjit Singh, Angelos Kalitzeos, Rupert W Strauss, Kaoru Fujinami, Michel Michaelides
    Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry.
    Am J Ophthalmol. 2019 Dec 6.
  • Rupert W Strauss, Xiangrong Kong, Alexander Ho, Anamika Jha, Sheila West, Michael Ip, Paul S Bernstein, David G Birch, Artur V Cideciyan, Michel Michaelides, José-Alain Sahel, Janet S Sunness, Elias I Traboulsi, Eberhart Zrenner, Sean Pitetta, Dennis Jenkins, Amir Hossein Hariri, SriniVas Sadda, Hendrik P N Scholl, ProgStar Study Group
    Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.
    JAMA Ophthalmol. 2019 Aug 1.
  • Ervin AM, Strauss RW, Ahmed MI, Fujinami K, et al.
    A Workshop on Measuring the Progression of Atrophy Secondary to Stargardt Disease in the ProgStar Studies: Findings and Lessons Learned.
    Transl Vis Sci Technol. 2019 Apr 12;8(2):16.
  • Ann-Margret Ervin, Rupert W Strauss, Mohamed I Ahmed, David Birch, Janet Cheetham, Frederick L Ferris 3rd, Michael S Ip, Glenn J Jaffe, Maureen G Maguire, Etienne M Schönbach, SriniVas R Sadda, Sheila K West, Hendrik P N Scholl, ProgStar Study Group
    Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics.
    Genet. Med. 2020 Jul;22(7):1235-1246.
  • Berry V, Georgiou M, Fujinami K, Quinlan R, Moore A, Michaelides M.
    Inherited Cataracts: Molecular Genetics, Clinical Features, Disease Mechanisms, and Novel Therapeutic Approaches.
    Br J Ophthalmol 2020 Oct;104(10):1331-1337.
  • Liu X*, Fujinami K, Tsunoda K.
    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.
  • Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami,Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium
    Phenogenon: Gene to Phenotype Associations for Rare Genetic Diseases.
    PLoS One. 2020 Apr 9;15(4):e0230587.
  • Goto S, Maeda N, Noda T, Ohnuma K, Iehisa I, Koh S, Nishida K.
    Comparison of composite and segmental methods for acquiring optical axial length with swept-source optical coherence tomography.
    Scientific Reports. 2020;10(1):4474.
  • Goto S, Maeda N, Noda T, Ohnuma K, Iehisa I, Koh S, Nishida K.
    Change in optical axial length after cataract surgery: segmental method versus composite method.
    J Cataract Refract Surg. 2020 May;46(5):710-715.
  • Ito Y, Sasaki M, Takahashi H, Nozaki S, Matsuguma S, Motomura K, Ui R, Shikimoto R, Kawasaki R, Yuki K, Sawada N, Mimura M, Tsubota K, Tsugane S.
    Quantitative Assessment of the Retina Using OCT and Associations with Cognitive Function. Ophthalmology. 2020 Jan;127(1):107-118.
  • Uchida A, Sasaki M, Motomura K, Yuki K, Kurihara T, Tomita Y, Ozawa Y, Yamagishi K, Kawasaki R, Hanyuda A, Sawada N, Tsubota K, Tsugane S, Iso H.
    Relationship between nerve fiber layer defect and the presence of epiretinal membrane in a Japanese population: The JPHC-NEXT Eye Study. Sci Rep. 2020 Jan 21;10(1):779.
  • Sasaki M, Harada S, Tsubota K, Yasukawa T, Takebayashi T, Nishiwaki Y, Kawasaki R. Dietary Saturated Fatty Acid Intake and Early Age-Related Macular Degeneration in a Japanese Population. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):23.
  • Hanyuda A, Sawada N, Yuki K, Uchino M, Ozawa Y, Sasaki M, Yamagishi K, Iso H, Tsubota K, Tsugane S.
    Relationships of diabetes and hyperglycaemia with intraocular pressure in a Japanese population: the JPHC-NEXT Eye Study. Sci Rep. 2020 Mar 24;10(1):5355.
  • Shimura M, Kitano S, Muramatsu D, Fukushima H, Takamura Y, Matsumoto M, Kokado M, Kogo J, Sasaki M, Morizane Y, Utsumi T, Koto T, Sonoda S, Hirano T, Ishikawa H, Mitamura Y, Okamoto F, Kinoshita T, Kimura K, Sugimoto M, Yamashiro K, Suzuki Y, Hikichi T, Washio N, Sato T, Ohkoshi K, Tsujinaka H, Kusuhara S, Kondo M, Takagi H, Murata T, Sakamoto T; Japan Clinical Retina Study (J-CREST) group.
    Real-world management of treatment-naïve diabetic macular oedema: 2-year visual outcome focusing on the starting year of intervention from STREAT-DMO study. Br J Ophthalmol. 2020Dec;104(12):1755-1761
  • Sasaki M, Harada S, Tsubota K, Yasukawa T, Takebayashi T, Nishiwaki Y, Kawasaki R. Dietary Saturated Fatty Acid Intake and Early Age-Related Macular Degeneration in a Japanese Population. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):23..

2018年

  • 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.
  • 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.
  • Thompson DA, Fujinami K, Perlman I, Hamilton R, Robson AG.
    ISCEV extended protocol for the dark-adapted red flash ERG.
    Doc Ophthalmol. 2018 Jun;136(3):191-197.
  • Kumaran N, Rubin GS, Kalitzeos A, Fujinami K, Bainbridge JWB, Weleber RG, Michaelides M.
    A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
    Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3330 – 3339.
  • 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
  • Kong X, Fujinami K, Strauss RW, Munoz B, West SK, Cideciyan AV, Michaelides M, Ahmed M, Ervin AM, Schönbach E, Cheetham JK, Scholl HPN; ProgStar Study Group.
    Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10.
    JAMA Ophthalmol. 2018 Aug 1;136(8):920-928.
  • Mahroo OA, Fujinami K, Moore AT, Webster AR.
    Retinal findings in a patient with mutations in ABCC6 and ABCA4.
    Eye (Lond). 2018 Sep;32(9):1542-1543.
  • Ota Y, Ozeki N, Yuki K, Shiba D, Kimura I, Tsunoda K, Shinoda K, Ohde H, Tsubota K.
    The Efficacy of Transcorneal Electrical Stimulation for the Treatment of Primary Open-angle Glaucoma: A Pilot Study.
    Keio J Med. 2018 Sep 25;67(3):45-53.
  • Schönbach EM, Strauss RW, Kong X, Muñoz B, Ibrahim MA, Sunness JS, Birch DG, Hahn GA, Nasser F, Zrenner E, Sadda SR, West SK, Scholl HPN; ProgStar Study Group (Fujinami K and others).
    Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12.
    Am J Ophthalmol. 2018 Sep;193:54-61.
  • Ando R, Saito W, Kanda A, Kase S, Fujinami K, Sugahara M, Nakamura Y, Eguchi S, Mori S, Noda K, Shinoda K, Ishida S.
    Clinical Features of Japanese Patients With Anti-α-enolase Antibody-Positive Autoimmune Retinopathy: Novel Subtype of Multiple Drusen.
    Am J Ophthalmol. 2018 Dec;196:181-196.
  • 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.
  • 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.
  • Tanna P, Georgiou M, Strauss RW, Ali N, Kumaran N, Kalitzeos A, Fujinami K, Michaelides M.
    Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.
    Transl Vis Sci Technol. 2019 Mar 1;8(2):1.
  • 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.
  • Akiyama K, Fujinami K, Watanabe K, Noda T, Miyake Y, Tsunoda K.
    Macular dysfunction in patients with macula-on rhegmatogenous retinal detachments.
    Br J Ophthalmol. 2019 Mar;103(3):404-409.
  • Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group; On behalf of the ProgStar Study Group.
    Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
    Br J Ophthalmol. 2019 Mar;103(3):390-397.
  • Akiyama K, Fujinami K, Watanabe K, Fukui M, Tsunoda K, Noda T.
    VALIDITY AND EFFICACY OF INTERNAL LIMITING MEMBRANE PEELING DURING INITIAL VITRECTOMY FOR RHEGMATOGENOUS RETINAL DETACHMENT: VISUAL OUTCOMES IN MACULA-SPARING CASES.
    Retin Cases Brief Rep. 2018 Jun;25.
  • 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. 2019 Jul;39(7):1299-1304.
  • 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.
  • Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K and on behalf of the Japan Eye Genetics Consortium
    Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-domain Optical Coherent Tomography Utilizing Deep Learning Techniques
    Journal of Ophthalmology 2019 Apr 9;2019:1691064.
  • Nagamoto T, Mizuno Y, Shigeyasu C, Fukui M, Yamada M.
    Conjuntival eosinophilic masses with chronic eosinophilic pneumonia. Cornea. 37 1326 – 1327 2018
  • Gender-specific association of early age-related macular degeneration with systemic and genetic factors in a Japanese population.
    Sasaki M, Harada S, Kawasaki Y, Watanabe M, Ito H, Tanaka H, Takeuchi A, Tsubota K, Takebayashi T, Nishiwaki Y, Kawasaki R.
    Sci Rep. 2018 Jan 15;8(1):785.

2017年

  • Ueno S, Nakanishi A, Akira S, Kominami T, Ito Y, Hayashi T, Tsunoda K, Iwata T, Terasaki H.
    Differences of ocular findings in two siblings; one with complete and other with incomplete achromatopsia.
    Doc Ophthalmol 134 141 – 147, 2017
  • Tanna P, Strauss RW, Fujinami K, Michaelides M.
    Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
    Br J Ophthalmol Jan;101(1):25-30, 2017
  • Schönbach EM, Wolfson Y, Strauss RW, Ibrahim MA, Kong X, Muñoz B, Birch DG, Cideciyan AV, Hahn GA, Nittala M, Sunness JS, Sadda SR, West SK, Scholl HPN; ProgStar Study Group (Fujinami K and others)
    Macular Sensitivity Measured With Microperimetry in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No.7.
    JAMA Ophthalmol 2017 Jul 1;135:696-703,2017
  • Strauss RW, Muñoz B, Ho A, Jha A, Michaelides M, Mohand-Said S, Cideciyan AV, Birch D, Hariri AH, Nittala MG, Sadda S, Scholl HPN*; ProgStar Study Group (Fujinami K and others).
    Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No.5
    JAMA Ophthalmol. Jul 1;135(7):687-695,2017
  • Hayashi T,Sasano H, Katagiri S, Tsunoda K, Kameya S, Nakazawa M, Iwata T， suneoka H.
    Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.
    Jpn J Ophthalmol 61（5）：395-401， 2017
  • Sasaki M, Kato Y, Fujinami K, Hirakata T, Tsunoda K, Watanabe K, Akiyama K, Noda T.
    Advanced quantitative analysis of the sub-retinal pigment epithelial space in recurrent neovascular age-related macular degeneration.
    PLoS One 12 (11) : e0186955, 2017
  • Yu Kato, Gen Hanazono, Kaoru Fujinami, Tetsuhisa Hatase, Yuichi Kawamura, Takeshi Iwata, Yozo Miyake, Kazushige Tsunoda
    Parafoveal photoreceptor abnormalities in asymptomatic patients with RP1L1 mutations in families with occult macular dystrophy
    Invest Ophthalmol Vis Sci.58（14）： 6020 – 6029, 2017
  • Kamron Khan, Melissa Kasilian, Omar Mahroo, Preena Tanna, Angelos Kalitzeos, Anthony Robson, Kazushige Tsunoda, Takeshi Iwata, Anthony Moore, Kaoru Fujinami, Michel Michaelides
    Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy
    Ophthalmology S0161-6420（17）：32533-2,2018
  • Yuka Ota, Naoki Ozeki, Kenya Yuki, Daisuke Shiba, Itaru Kimura, Kazushige Tsunoda, Kei Shinoda, Hisao Ohde and Kazuo Tsubota
    The Efficacy of Transcorneal Electrical Stimulation for the Treatment of Primary Open-angle Glaucoma: A Pilot Study
    Keio Journal of Medicine 2018
  • Azusa Kominami, Kominami, Ayami Nakanishi, Yasuki Ito, Kaoru Fujinami, Kazushige Tsunoda, Takaaki Hayashi, Sachiko Kikuchi,
    Case of Cone Dystrophy with Normal Fundus Appearance Associated with Biallelic POC1B Variants
    Ophthalmic Genet. 8：1-8.2017
  • Kong X, Strauss RW, Cideciyan AV, Michaelides M, Sahel JA, Munoz B, Ahmed M, Ervin AM, West SK, Cheetham JK, Scholl HPN*ProgStar Study Group (Fujinami K and others).
    Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study
    ProgStar Report Number 6. Ophthalmology. Nov 1;135(11):1232-1241. 2017
  • 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. Dec 8:1-8. 2017
  • 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.
    Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
    Hum Mutat. Jan;39(1):80-91.2018
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