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Identification of the origins of inherited retinal diseases and clarification of genotype-phenotype correlations based on three major ethnic groups worldwide utilizing artificial intelligence.

Research Project

Project/Area Number 22KJ2665
Project/Area Number (Other) 21J21086 (2021-2022)
Research Category

Grant-in-Aid for JSPS Fellows

Allocation TypeMulti-year Fund (2023)
Single-year Grants (2021-2022)
Section国内
Review Section Basic Section 43050:Genome biology-related
Research InstitutionKeio University

Principal Investigator

藤波 優  慶應義塾大学, 医学研究科, 特別研究員(DC1)

Project Period (FY) 2023-03-08 – 2024-03-31
Project Status Completed (Fiscal Year 2023)
Budget Amount *help
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 2023: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2022: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2021: ¥800,000 (Direct Cost: ¥800,000)
Keywords遺伝性網膜疾患 / 人工知能
Outline of Research at the Start

近年欧米で先行している遺伝性網膜疾患治療に対して、病的バリアントの起源・分散・民族性を同定するとともに、人工知能を活用した遺伝型表現型相関構築を通じて、各民族を対象とした病態解明をすすめる。本研究が、日本を含む非欧米地域における遺伝性網膜疾患への治療導入の足がかりとなることが期待される。

Outline of Annual Research Achievements

本研究の目的は、7大陸27カ国の多民族に渡る遺伝性網膜疾患コホートにおいて、病的バリアントの起源・分散・民族性を同定すると伴に、人工知能を活用した遺伝型表現型相関構築を通じて、各民族を対象とした病態解明を世界規模で推し進める事である。
機械学習により、臨床画像から疾患重症度診断、原因遺伝子予測を構築し、日本人コホートにおいて、罹患率の高い遺伝子に対して、遺伝型表現型関連解析を実践する。本研究で構築される、世界規模でのゲノムデータを活用しての、疾患理解の推進、人口知能を活用する事により可能となる民族基盤遺伝型表現型相関の構築は、治療法が確立されていない難病解決モデルとして、大きなインパクトが予想され近未来では、遠隔医療の現場等で、APIを用いた一時スクリーニングが実現する事で、医療の質向上、医療費の削減の両者に大きく寄与する事が期待される。本研究はこれまでに、研究代表者が参画しているEast Asia Retinal Disease Consortium を含めた、Global Inherited Retinal Disease Consortium を活用し、症例リクルートが完了した。得られたデータの標準化が行われ、人工知能を用いた遺伝型相関の構築が実践された。対象として抽出された原因遺伝子群ごとに、重症度カテゴリーをアウトカムとして、画像のデイープラーニングが行われた。その結果、世界で初めてバリアントレベルでの診断支援システムが確立され、結果が成果として公表された。本研究に関連してこれまでに論文32報、著書10報、学会発表53回、招待講演8回が行われている。

Report

(3 results)
  • 2023 Annual Research Report
  • 2022 Annual Research Report
  • 2021 Annual Research Report
  • Research Products

    (75 results)

All 2024 2023 2022 2021 2020 Other

All Int'l Joint Research (17 results) Journal Article (21 results) (of which Int'l Joint Research: 9 results,  Peer Reviewed: 9 results,  Open Access: 9 results) Presentation (30 results) (of which Int'l Joint Research: 28 results,  Invited: 1 results) Book (7 results)

  • [Int'l Joint Research] SNUBH/SNUCM/Hanyang University College of Medicine(韓国)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] UCL Institute of Ophthalmology/Oxford Eye Hospital/Royal Liverpool University Hospitals(英国)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Peking Union Medical College Hospital/Third Military Medical University/Henan Provincial Eye Hospital(中国)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] University of Nairobi(ケニア)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Lions Eye Institute(オーストラリア)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Se Joon Woo/Seong Joon Ahn/Kwangsic Joo(韓国)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] Ruifang Sui/Lizhu Yang/Xiao Liu(中国)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] Hwei Wuen Chen/Choi MunChan(シンガポール)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] FredChen/Jason Charng/EnidChelva(オーストラリア)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] Michel Michaelides/Anthony G Robson/Nikolas Pontikos(英国)

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2022 Annual Research Report
  • [Int'l Joint Research] UCL Institute of Ophthalmology/The University of Mancheter(英国)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] Hanyang University College of Medicine/Seoul National University College(韓国)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] Peking Union Medical College(中国)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] Lions Eye Institute(オーストラリア)

    • Related Report
      2021 Annual Research Report
  • [Int'l Joint Research] University of Nairobi(ケニア)

    • Related Report
      2021 Annual Research Report
  • [Journal Article] Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 42024

    • Author(s)
      Fujinami-Yokokawa Y, Joo K, Liu X, Tsunoda K, Kondo M, Ahn SJ, Robson AG, Naka I, Ohashi J, Li H, Yang L, Arno G, Pontikos N, Park KH, Michaelides M, Tachimori H, Miyata H, Sui R, Woo SJ, Fujinami K§.; East Asia Inherited Retinal Disease Society Study Group
    • Journal Title

      Invest Ophthalmol Vis Sc

      Volume: 2;65(1) Issue: 1 Pages: 41-41

    • DOI

      10.1167/iovs.65.1.41

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom2024

    • Author(s)
      Woof William、de Guimares...、Fujinami-Yokokawa Yu、他
    • Volume
      -
    • DOI

      10.1101/2024.03.24.24304809

    • Related Report
      2023 Annual Research Report
  • [Journal Article] IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History2024

    • Author(s)
      Sen Sagnik、Fabozzi Lorenzo、Fujinami Kaoru、Fujinami-Yokokawa Yu、Wright Genevieve A.、Webster Andrew、Mahroo Omar、Robson Anthony G.、Georgiou Michalis、Michaelides Michel
    • Journal Title

      American Journal of Ophthalmology

      Volume: - Pages: 205-215

    • DOI

      10.1016/j.ajo.2024.03.009

    • Related Report
      2023 Annual Research Report
  • [Journal Article] “Congenital Stationary Night Blindness: Structure, Function and Genotype ? Phenotype Correlations in a cohort of 122 patients.”2024

    • Author(s)
      Katta Mohamed、de Guimaraes Thales AC.、Fujinami-Yokokawa Yu、Fujinami Kaoru、Georgiou Michalis、Mahroo Omar A.、Webster Andrew R.、Michaelides Michel
    • Journal Title

      Ophthalmology Retina

      Volume: - Issue: 9 Pages: 932-941

    • DOI

      10.1016/j.oret.2024.03.017

    • Related Report
      2023 Annual Research Report
  • [Journal Article] Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy2024

    • Author(s)
      Hashem Shaima Awadh、Georgiou Michalis、Fujinami-Yokokawa Yu、Laich Yannik、Daich Varela Malena、de Guimaraes Thales A.C.、Ali Naser、Mahroo Omar A.、Webster Andrew R.、Fujinami Kaoru、Michaelides Michel
    • Journal Title

      American Journal of Ophthalmology

      Volume: 263 Pages: 1-10

    • DOI

      10.1016/j.ajo.2024.02.005

    • Related Report
      2023 Annual Research Report
  • [Journal Article] Best Vitelliform Macular Dystrophy Natural History Study Report 12024

    • Author(s)
      Laich Yannik、Georgiou Michalis、Fujinami Kaoru、Daich Varela Malena、Fujinami-Yokokawa Yu、Hashem Shaima Awadh、Cabral de Guimaraes Thales Antonio、Mahroo Omar A.、Webster Andrew R.、Michaelides Michel
    • Journal Title

      Ophthalmology

      Volume: - Issue: 7 Pages: 845-854

    • DOI

      10.1016/j.ophtha.2024.01.027

    • Related Report
      2023 Annual Research Report
  • [Journal Article] Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes2024

    • Author(s)
      Georgiou Michalis、Robson Anthony G.、Fujinami Kaoru、de Guimar?es Thales A.C.、Fujinami-Yokokawa Yu、Daich Varela Malena、Pontikos Nikolas、Kalitzeos Angelos、Mahroo Omar A.、Webster Andrew R.、Michaelides Michel
    • Journal Title

      Progress in Retinal and Eye Research

      Volume: 100 Pages: 101244-101244

    • DOI

      10.1016/j.preteyeres.2024.101244

    • Related Report
      2023 Annual Research Report
  • [Journal Article] RBP3-Retinopathy?Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping2024

    • Author(s)
      Georgiou Michalis、Fujinami Kaoru、Robson Anthony G.、Fujinami-Yokokawa Yu、Shakarchi Ahmed F.、Ji Marco H.、Uwaydat Sami H.、Kim Angela、Kolesnikova Masha、Arno Gavin、Pontikos Nikolas、Mahroo Omar A.、Tsang Stephen H.、Webster Andrew R.、Michaelides Michel
    • Journal Title

      American Journal of Ophthalmology

      Volume: 258 Pages: 119-129

    • DOI

      10.1016/j.ajo.2023.09.025

    • Related Report
      2023 Annual Research Report
  • [Journal Article] Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 52023

    • Author(s)
      Fujinami-Yokokawa Yu、Yang Lizhu、Joo Kwangsic、Tsunoda Kazushige、Liu Xiao、Kondo Mineo、Ahn Seong Joon、Li Hui、Park Kyu Hyung、Tachimori Hisateru、Miyata Hiroaki、Woo Se Joon、Sui Ruifang、Fujinami Kaoru
    • Journal Title

      Genes

      Volume: 14 Issue: 10 Pages: 1869-1869

    • DOI

      10.3390/genes14101869

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Stargardt macular dystrophy and therapeutic approaches2023

    • Author(s)
      Fujinami Kaoru、Waheed Nadia、Laich Yannik、Yang Paul、Fujinami-Yokokawa Yu、Higgins Joseph J、Lu Jonathan T、Curtiss Darin、Clary Cathryn、Michaelides Michel
    • Journal Title

      British Journal of Ophthalmology

      Volume: - Pages: bjo-2022-323071

    • DOI

      10.1136/bjo-2022-323071

    • Related Report
      2023 Annual Research Report
  • [Journal Article] KCNV2-associated retinopathy: genotype-phenotype correlations KCNV2 study group report 32023

    • Author(s)
      de Guimaraes Thales A C、Georgiou Michalis、...、Fujinami-Yokokawa Yu、他
    • Journal Title

      British Journal of Ophthalmology

      Volume: - Issue: 8 Pages: 1137-1144

    • DOI

      10.1136/bjo-2023-323640

    • Related Report
      2023 Annual Research Report
  • [Journal Article] CERKL-Associated Retinal Dystrophy2023

    • Author(s)
      Daich Varela Malena、Duignan Emma S.、De Silva Samantha R.、Ba-Abbad Rola、Fujinami-Yokokawa Yu、Leo Shaun、Fujinami Kaoru、Mahroo Omar A.、Robson Anthony G.、Webster Andrew R.、Michaelides Michel
    • Journal Title

      Ophthalmology Retina

      Volume: 7 Issue: 10 Pages: 918-931

    • DOI

      10.1016/j.oret.2023.06.007

    • Related Report
      2023 Annual Research Report
  • [Journal Article] CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History2023

    • Author(s)
      Daich Varela Malena、Georgiou Michalis、Alswaiti Yahya、Kabbani Jamil、Fujinami Kaoru、Fujinami-Yokokawa Yu、Khoda Shaheeni、Mahroo Omar A.、Robson Anthony G.、Webster Andrew R.、AlTalbishi Alaa、Michaelides Michel
    • Journal Title

      American Journal of Ophthalmology

      Volume: 246 Pages: 107-121

    • DOI

      10.1016/j.ajo.2022.09.002

    • Related Report
      2023 Annual Research Report 2022 Annual Research Report
  • [Journal Article] Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 32022

    • Author(s)
      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
    • Journal Title

      Invest Ophthalmol Vis Sci

      Volume: 63 Issue: 1 Pages: 12-12

    • DOI

      10.1167/iovs.63.1.12

    • Related Report
      2022 Annual Research Report 2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] X-Linked Retinoschisis2022

    • Author(s)
      Georgiou Michalis、Finocchio Lucia、Fujinami Kaoru、Fujinami-Yokokawa Yu、Virgili Gianni、Mahroo Omar A.、Webster Andrew R.、Michaelides Michel
    • Journal Title

      Ophthalmology

      Volume: 129 Issue: 5 Pages: 542-551

    • DOI

      10.1016/j.ophtha.2021.11.019

    • Related Report
      2022 Annual Research Report 2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] 連載 今月の話題 AI時代の遺伝性網膜疾患2021

    • Author(s)
      藤波(横川) 優、藤波 芳、宮田 裕章
    • Journal Title

      臨床眼科

      Volume: 75 Issue: 13 Pages: 1574-1581

    • DOI

      10.11477/mf.1410214234

    • ISSN
      0370-5579, 1882-1308
    • Year and Date
      2021-12-15
    • Related Report
      2021 Annual Research Report
  • [Journal Article] Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.2021

    • Author(s)
      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.
    • Journal Title

      Br J Ophthalmol

      Volume: - Issue: 9 Pages: 1272-1279

    • DOI

      10.1136/bjophthalmol-2020-318544

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] KCNV2-associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints - KCNV2 Study Group Report 22021

    • Author(s)
      Georgiou M, Fujinami K,,..., Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carre?o E, Garcia-Sandoval B, Carmen A, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, H?on E, Khan AO, Zrenner E, Michaelides M.
    • Journal Title

      Am J Ophthalmol

      Volume: S0002-9394(21) Pages: 00117-3

    • DOI

      10.1016/j.ajo.2021.03.004

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Long-term follow-up of a Chinese patient with KCNV2-retinopathy2021

    • Author(s)
      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.
    • Journal Title

      Ophthalmic Genet

      Volume: 42(2) Issue: 2 Pages: 144-149

    • DOI

      10.1080/13816810.2020.1861307

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 22021

    • Author(s)
      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
    • Journal Title

      Am J Ophthalmol

      Volume: 221 Pages: 169-180

    • DOI

      10.1016/j.ajo.2020.07.025

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 12020

    • Author(s)
      Georgiou M, Robson AG, Fujinami K, ..., Fujinami-Yokokawa Y, et al.
    • Journal Title

      Am J Ophthalmol

      Volume: 225 Pages: 95-107

    • DOI

      10.1016/j.ajo.2020.11.022

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] 遺伝性網膜疾患患者における角膜電気刺激誘発電気反応2024

    • Author(s)
      藤波(横川)優, 鈴木 泰賢, Jeffrey Farmer, 篠田啓, 角田和繁, 三宅養三, 藤波 芳
    • Organizer
      第70回 日本臨床視覚電気生理学会
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Electrically Evoked Responses Elicited by Transcorneal Electrical Stimulation in Patients with Retinitis Pigmentosa.2023

    • Author(s)
      Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki1, Motosh Yamamoto, Kayoko Komatsu, Natsuki Maetani, Hisateru Tachimori, Hiroaki Miyata, Jeffrey Farmer, Kei Shinoda, Kazushige Tsunoda, Yozo Miyake, Kaoru Fujinami.
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Dark-adapted Full-field Stimulus Threshold in Ultra-low vision Patients with Retinitis Pigmentosa2023

    • Author(s)
      Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Deep phenotyping of NR2E3 G56R-retinopathy in a Japanese patient2023

    • Author(s)
      Kayoko Komatsu, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Gavin Arno, Nikolas Pontikos, Motoshi Yamamoto, Natsuki Maetani, Kazushige Tsunoda, Kaoru Fujinami
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Deep phenotyping of RBP3-retinopathy; inherited pathological myopia and retinal dystrophy2023

    • Author(s)
      Motoshi Yamamoto, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Gavin Arno, Nikolas Pontikos, Kayoko Komatsu, Natsuki Maetani, Kazushige Tsunoda, Michel Michaelides, Kaoru Fujinami
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Full-Field Pupillary Light Responses in Patients with Retinitis Pigmentosa and Healthy Subjects.2023

    • Author(s)
      Natsuki Maetani, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Motoshi Yamamoto, Kayoko Komatsu, Jeffrey Farmer, Kazushige Tsunoda, Kaoru Fujinami.
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] The electrophysiological and clinical features of CERKL-associated retinal dystrophy with genotype-phenotype associations.2023

    • Author(s)
      Anthony G. Robson, Malena Daich Varela, Samantha De Silva, Emma Duignan, Rola Ba-Abbad, Yu Fujinami-Yokokawa, Shaun Leo, Kaoru Fujinami, Omar A Mahroo, Andrew R. Webster, Michel Michaelides.
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Electrically Evoked Responses Elicited by Transcorneal Electrical Stimulation in Patients with Retinitis Pigmentosa.2023

    • Author(s)
      Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Motoshi Yamamoto, Kayoko Komatsu, Natsuki Maetani, Hisateru Tachimori, Hiroaki Miyata, Jeffrey Farmer, Kei Shinoda, Kazushige Tsunoda, Yozo Miyake, Kaoru Fujinami.
    • Organizer
      Association for Research in Vision and Ophthalmology (ARVO) 2023 Annual Meeting
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Dark-adapted Full-field Stimulus Threshold in Ultra-low Vision Patients with Retinitis Pigmentosa.2023

    • Author(s)
      Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda.
    • Organizer
      Association for Research in Vision and Ophthalmology (ARVO) 2023 Annual Meeting
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Distinct clinical effect of two RP1L1 hotspots of East Asian Patients with Occult Macular Dystrophy (Miyake disease); Identification of variant-based genotype by deep learning.2023

    • Author(s)
      Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, Kazushige Tsunoda, Mineo Kondo, Izumi Naka, Jun Ohashi, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui, Kaoru Fujinami.
    • Organizer
      The 68th Annual Meeting of Japanese Society of Human Genetics
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Occult Macular Dysfunction Syndrome: Identification of multiple causative genes of macular dysfunction with normal fundus.2023

    • Author(s)
      Kaoru Fujinami, Yu Fujinami-Yokokawa, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Xiao Liu, Mineo Kondo, Izumi Naka, Jun Ohashi, Satomi Inoue, Kazuki Yamazawa, Tatsuo Matsunaga, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui.
    • Organizer
      The 68th Annual Meeting of Japanese Society of Human Genetics
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 重度網膜色素変性症における全視野光覚閾値2023

    • Author(s)
      藤波 芳, 藤波 優, 鈴木泰賢, Xiao Liu, Oscar Onyango, Jeff Farmer, Michel Michaelides, 角田和繁
    • Organizer
      第62回 日本網膜硝子体学会総会
    • Related Report
      2023 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): perimetric features and their association with genotype2023

    • Author(s)
      Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Motosh Yamamoto, Kayoko Komatsu, Natsuki Maetani, Hisateru Tachimori, Hiroaki Miyata, Jeffrey Farmer, Kei Shinoda, Kazushige Tsunoda, Yozo Miyake, Kaoru Fujinami.
    • Organizer
      The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] East Asian Patients with Occult Macular Dystrophy Report No.4; Genotype Phenotype Association2022

    • Author(s)
      Yu Fujinami-Yokokawa, Kwangsic Joo, Kazushige Tsunoda, Mineo Kondo, Xuan Zou, Hui Li, Kyu Hyung Park, Izumi Naka, Jun Ohashi, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui, Kaoru Fujinami.
    • Organizer
      The Association for Research in Vision and Ophthalmology annual meeting 2022. RVO 2022 Annual Meeting
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Electrically evoked responses in severe retinitis pigmentosa2022

    • Author(s)
      Yu Fujinami-Yokokawa, Yasutaka Suzuki, Hisateru Tachimori, Hiroaki Miyata, Jeffrey Farmer, Kei Shinoda, Kazushige Tsunoda, Yozo Miyake, Kaoru Fujinami.
    • Organizer
      The 59th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2022
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Prediction of Causative Genes in Inherited Retinal Disorders from Fundus Photography and Autofluorescence Imaging2022

    • Author(s)
      Yu Fujinami-Yokokawa
    • Organizer
      EVER Congress 2022
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 東アジアの黄斑変性症患者における2つのRP1L1ホットスポットの異なる臨床症状; EAOMD Report No.42022

    • Author(s)
      Yu Fujinami-Yokokawa, Seong Joon Ahn, Kwangsic Joo, Kazushige Tsunoda, Mineo Kondo, Hui Li, Kyu Hyung Park, Izumi Naka, Jun Ohashi, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui, Kaoru Fujinami ,EAIRDs group.
    • Organizer
      日本人類遺伝学会第67回大会
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] The clinical and electrophysiological features of CRB1- associated retinal dystrophies.2022

    • Author(s)
      Anthony G. Robson, Malena Daich Varela, Michalis Georgiou, Shaheeni Khoda, Kaoru Fujinami, Yu Fujinami-Yokokawa, Andrew R. Webster, Michel Michaelides.
    • Organizer
      The 59th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2022
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Dark-adapted full-field stimulus threshold in severely affected patients with retinitis pigmentosa2022

    • Author(s)
      Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda.
    • Organizer
      The 59th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2022
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Full-Field Scotopic Thresholds for Color Stimuli in Severe Patients with Retinitis Pigmentosa2022

    • Author(s)
      Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda
    • Organizer
      The Association for Research in Vision and Ophthalmology annual meeting 2022. e Association for Research in Vision and Ophthalmology (ARVO) 2022 Annual Meeting
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Dark-adapted Full-field Stimulus Threshold in Ultra-low vision Patients with Retinitis Pigmentosa2022

    • Author(s)
      Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda
    • Organizer
      The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Deep phenotyping of RBP3-retinopathy; inherited pathological myopia and retinal dystrophy2022

    • Author(s)
      Motoshi Yamamoto, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Gavin Arno, Nikolas Pontikos, Kayoko Komatsu, Natsuki Maetani1, Kazushige Tsunoda, Michel Michaelides, Kaoru Fujinami
    • Organizer
      The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Deep phenotyping of NR2E3 G56R-retinopathy in a Japanese patient2022

    • Author(s)
      Kayoko Komatsu, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Gavin Arno, Nikolas Pontikos, Motoshi Yamamoto, Natsuki Maetani, Kazushige Tsunoda, Kaoru Fujinami
    • Organizer
      The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Full-Field Pupillary Light Responses in Patients with Retinitis Pigmentosa and Healthy Subjects2022

    • Author(s)
      Natsuki Maetani, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Motoshi Yamamoto, Kayoko Komatsu, Jeffrey Farmer, Kazushige Tsunoda, Kaoru Fujinami.
    • Organizer
      The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] The electrophysiological and clinical features of CERKL-associated retinal dystrophy with genotype-phenotype associations.2022

    • Author(s)
      Anthony G. Robson, Malena Daich Varela, Samantha De Silva, Emma Duignan, Rola Ba-Abbad, Yu Fujinami-Yokokawa, Shaun Leo, Kaoru Fujinami, Omar A Mahroo, Andrew R. Webster, Michel Michaelides.
    • Organizer
      The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
    • Related Report
      2022 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Prediction of Causative Genes in Inherited Retinal Disorders From fundus photography and autofluorescence imaging Utilizing Deep Learning Techniques2021

    • Author(s)
      Fujinami-Yokokawa Y, Ninomiya H, Liu X, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K
    • Organizer
      日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催
    • Related Report
      2021 Annual Research Report
  • [Presentation] Prediction of Causative Genes in Inherited Retinal Disorders from Fundus photography and Fundus Autofluorescence Imaging Utilising Deep Learning Techniques).2021

    • Author(s)
      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
    • Organizer
      The Association for Research in Vision and Ophthalmology (ARVO) 2021 Annual Meeting
    • Related Report
      2021 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 網膜色素変性症における全視野光覚閾値2021

    • Author(s)
      藤波 芳, 藤波 優, 鈴木 泰賢, Jeffrey Farmer,角田和繁
    • Organizer
      第60回日本網膜硝子体学会
    • Related Report
      2021 Annual Research Report
  • [Presentation] The clinical and genetic spectrum of cone-dominated retinal dystrophies with normal funduscopic appearance2021

    • Author(s)
      Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Kondo M, Mizota A, Shinoda K, Mochizuki K, Kameya S, Ideta R, Naoi N, Ikeda Y, Fujinami-Yokokawa Y, Yang L, Liu X, Yoshitake K, Miyake Y, Iwata T, Tsunoda K; Japan Eye Genetics Consortium Study Group.
    • Organizer
      The Association for Research in Vision and Ophthalmology (ARVO) 2021 Annual Meeting
    • Related Report
      2021 Annual Research Report
    • Int'l Joint Research
  • [Presentation] East Asia Inherited Retinal Disease Society Overview -concept and history-2021

    • Author(s)
      Fujinami K, Fujinami-Yokokawa Y
    • Organizer
      3rd East Asia Inherited Retinal Disease symposium
    • Related Report
      2021 Annual Research Report
    • Int'l Joint Research
  • [Book] 網膜色素変性症の遺伝子治療.2023

    • Author(s)
      藤波 芳, 藤波(横川) 優, Nikolas Pontikos.
    • Publisher
      日本医師会雑誌 152巻7号, 2023年10月, pp.794-796.
    • Related Report
      2023 Annual Research Report
  • [Book] 黄斑ジストロフィ2023

    • Author(s)
      藤波(横川) 優, 藤波 芳, Nikolas Pontikos.
    • Publisher
      眼科エクレール 2巻, 2023年10月, pp.272-280.
    • Related Report
      2023 Annual Research Report
  • [Book] その他の黄斑ジストロフィ2023

    • Author(s)
      藤波(横川) 優, 藤波 芳
    • Publisher
      新編眼科プラクテイス11巻, 2023年10月, pp.214-219.
    • Related Report
      2023 Annual Research Report
  • [Book] 遺伝子治療のTOPICS2022

    • Author(s)
      藤波 芳、藤波(横川)優、Liu Xiao, 鈴木 泰賢, Arno Gavin, Pontikos Nikolas.
    • Total Pages
      7
    • Publisher
      Retina Medicine
    • Related Report
      2022 Annual Research Report
  • [Book] 黄斑ジストロフィ病型と遺伝子診断2022

    • Author(s)
      藤波 芳、藤波(横川)優.黄斑ジストロフィ病型と遺伝子診断.
    • Total Pages
      7
    • Publisher
      臨床眼科
    • Related Report
      2022 Annual Research Report
  • [Book] Clinical Ophthalmic Genetics and Genomics2022

    • Author(s)
      Fujinami-Yokokawa Y, Robson AG, Sergouniotis PI, Fujinaim K*.
    • Total Pages
      1394
    • Publisher
      ELSEVIER
    • Related Report
      2021 Annual Research Report
  • [Book] Inherited Retinal Disease2022

    • Author(s)
      Fujinami K*, Fujinami-Yokokawa Y,* Yang L, Liu X, Arno G, Pontikos N
    • Total Pages
      237
    • Publisher
      SPRINGER
    • Related Report
      2021 Annual Research Report

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Published: 2021-05-27   Modified: 2024-12-25  

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