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2019 Fiscal Year Research-status Report

Development and clinical application of quantitative visual evaluation with comprehensive light emitting diode stimulation for patients with severe visual impairment.

Research Project

Project/Area Number 18K16943
Research Institution独立行政法人国立病院機構(東京医療センター臨床研究センター)

Principal Investigator

藤波 優  独立行政法人国立病院機構(東京医療センター臨床研究センター), 視覚研究部, 研究員 (50815173)

Project Period (FY) 2018-04-01 – 2021-03-31
Keywords視機能評価
Outline of Annual Research Achievements

重症網膜疾患に起因する重度視覚障害は生活の質に直結する重篤な症状を呈し、改善必須の社会問題となって久しい。近年、分子細胞生物学の発展に伴い、重度視覚障害に関する治療導入が現実のものとなっているものの、先鋭的治療導入は実臨床に届いていない。その大きな要因が、治療の適応判断と効果判定に関する有用な評価法が存在しない事実が挙げられる。
本研究の目的は、治療導入・展開が見込まれる重度視覚障害患者に対して、東京医療センター・臨床研究センター(NISO)、英国UCL Institute of Ophthalmology (UCL IoO)、Cambridge Research Systems (CRS)との密な連携下で最新の統合型LEDモニタ刺激技術を用いて刺激アルゴリズを構築する事で、従来の視力検査では定量的な測定が困難であった重度視覚障害患者群に対して、視野や病状・病態を加味した様々なパターンを用いた包括的・定量的評価系を確立し、その臨床応用を実践する事である。
令和元年度では、研究初年度に東京医療センター、UCL IoO、CRSの協力体制の元、構築された視覚刺激アルゴリズムが使用された。正常例16眼において、仮想視覚モデル眼鏡(中心視機能障害、周辺視機能障害、中心周辺視機能障害)を用いて、それらの検査結果について検討がなされ、臨床現場で実践可能な刺激アルゴリズム・検査プロトコルが確立された。重症度視覚障害患者に関する従来の視力の4分類(指数弁、手動弁、光覚弁、無光覚)に対する、詳細な定量的評価数値の同定についても並行して行われた。

Current Status of Research Progress
Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

本研究では3年の研究計画の中で3段階を経て重度視覚障害に対する包括的・定量的評価系を確立し、実臨床で実践される中で、その有用性が模索される。1:視覚刺激アルゴリズムの構築 (平成30年度)、2: 正常眼における検討、刺激アルゴリズム・検査プロトコルの確定(令和元年度)、3:重症網膜疾患における実践、有用性の評価(令和2年度)が行われる。 令和元年度では、正常被検者における検討、刺激アルゴリズム・検査プロトコルの確定が行われた。最も頻度の高い網膜色素変性症を含む遺伝性網膜疾患については、重症度の指標となる形態学的変化と視機能との関連が新たに発見され、論文発表(First author 1報、Co-author 4報)が行われた。
正常例16眼において、中心視機能障害、周辺視機能障害、中心周辺視機能障害等の仮想視覚をモデル眼鏡を用いて作成し、それらの検査結果を検討する事で、臨床現場で実践可能な刺激アルゴリズム・検査プロトコルが確立された。重症度視覚障害患者に関する従来の視力の4分類(指数弁、手動弁、光覚弁、無光覚)に対する、詳細な定量的評価数値の同定が行われた。

Strategy for Future Research Activity

本研究では、視覚刺激アルゴリズムの正常眼における検討、刺激アルゴリズム・検査プロトコルの確定(令和元年度)、並びに重症網膜疾患における実践、有用性の評価(令和2年度)を通して、重度視覚障害に対する包括的・定量的評価系を確立し、その臨床応用が実践される。 研究最終年度では、重症網膜疾患における実践、有用性の評価を行う予定である。
研究初年度・次年度で確立されたプロトコルを重度視覚障害において最も頻度が高いといわれている網膜色素変性症をはじめとする重症網膜疾患を有する患者20眼において包括的視機能評価が実践される。東京医療センターにて患者リクルートが行われ、令和元年度に構築された刺激アルゴリズム・検査プロトコルによる検査が実施される。また、検査結果は視覚障害質問票を用いた生活・視覚の質評価などのパラメタと比較され、その相関が同定される。上記結果を受け、それぞれの重度視覚障害の病状・病態に対する刺激アルゴリズム・検査プロトコルの適応・有効性が同定される。

  • Research Products

    (31 results)

All 2020 2019 Other

All Int'l Joint Research (6 results) Journal Article (7 results) (of which Int'l Joint Research: 7 results,  Peer Reviewed: 7 results,  Open Access: 7 results) Presentation (16 results) (of which Int'l Joint Research: 15 results,  Invited: 3 results) Book (2 results)

  • [Int'l Joint Research] UCL institute of ophthalmology(英国)

    • Country Name
      UNITED KINGDOM
    • Counterpart Institution
      UCL institute of ophthalmology
  • [Int'l Joint Research] Southwest Hospital/Peking Union Medical College Hospital/Henan Eye Institute, Henan Eye Hospital(中国)

    • Country Name
      CHINA
    • Counterpart Institution
      Southwest Hospital/Peking Union Medical College Hospital/Henan Eye Institute, Henan Eye Hospital
    • # of Other Institutions
      1
  • [Int'l Joint Research] Lion Eye Institute(オーストラリア)

    • Country Name
      AUSTRALIA
    • Counterpart Institution
      Lion Eye Institute
  • [Int'l Joint Research] Singapore National Eye Centre(シンガポール)

    • Country Name
      SINGAPORE
    • Counterpart Institution
      Singapore National Eye Centre
  • [Int'l Joint Research] SNUBH/Seoul National University Hospital/SUBH(韓国)

    • Country Name
      KOREA (REP. OF KOREA)
    • Counterpart Institution
      SNUBH/Seoul National University Hospital/SUBH
    • # of Other Institutions
      3
  • [Int'l Joint Research]

    • # of Other Countries
      24
  • [Journal Article] Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association2020

    • Author(s)
      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.
    • Journal Title

      Sci Rep

      Volume: 10(1) Pages: 9531

    • DOI

      10.1038/s41598-020-65737-z

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency2020

    • Author(s)
      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.
    • Journal Title

      Sci Rep

      Volume: 10(1) Pages: 5497

    • DOI

      10.1038/s41598-020-62119-3

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Phenogenon: Gene to phenotype associations for rare genetic diseases2020

    • Author(s)
      Pontikos Nikolas、Murphy Cian、Moghul Ismail、Arno Gavin、Fujinami Kaoru、Fujinami Yu、Sumodhee Dayyanah、Downes Susan、Webster Andrew、Yu Jing、UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium
    • Journal Title

      PLOS ONE

      Volume: 15 Pages: e0230587

    • DOI

      https://doi.org/10.1371/journal.pone.0230587

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants2019

    • Author(s)
      Mawatari Go、Fujinami Kaoru、Liu Xiao、Yang Lizhu、Yokokawa Yu-Fujinami、Komori Shiori、Ueno Shinji、Terasaki Hiroko、Katagiri Satoshi、Hayashi Takaaki、Kuniyoshi Kazuki、Miyake Yozo、Tsunoda Kazushige、Yoshitake Kazutoshi、Iwata Takeshi、Nao-i Nobuhisa
    • Journal Title

      Human Genome Variation

      Volume: 6 Pages: 6-34

    • DOI

      https://doi.org/10.1038/s41439-019-0065-7

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance2019

    • Author(s)
      Kameya Shuhei、Fujinami Kaoru、Ueno Shinji、Hayashi Takaaki、Kuniyoshi Kazuki、Ideta Ryuichi、Kikuchi Sachiko、Kubota Daiki、Yoshitake Kazutoshi、Katagiri Satoshi、Sakuramoto Hiroyuki、Kominami Taro、Terasaki Hiroko、Yang Lizhu、Fujinami-Yokokawa Yu、et al.
    • Journal Title

      Investigative Opthalmology & Visual Science

      Volume: 60 Pages: 3432~3432

    • DOI

      https://doi.org/10.1167/iovs.19-26650

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques2019

    • Author(s)
      Fujinami-Yokokawa Yu、Pontikos Nikolas、Yang Lizhu、Tsunoda Kazushige、Yoshitake Kazutoshi、Iwata Takeshi、Miyata Hiroaki、Fujinami Kaoru、Japan Eye Genetics Consortium on behalf of
    • Journal Title

      Journal of Ophthalmology

      Volume: 2019 Pages: 1~7

    • DOI

      https://doi.org/10.1155/2019/1691064

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease)2019

    • Author(s)
      Fujinami Kaoru、Yang Lizhu、Joo Kwangsic、Tsunoda Kazushige、Kameya Shuhei、Hanazono Gen、Fujinami-Yokokawa Yu、Arno Gavin、Kondo Mineo、Nakamura Natsuko、Kurihara Toshihide、Tsubota Kazuo、Zou Xuan、Li Hui、Park Kyu Hyung、Iwata Takeshi、Miyake Yozo、Woo Se Joon、Sui Ruifang
    • Journal Title

      Ophthalmology

      Volume: 126 Pages: 1432~1444

    • DOI

      https://doi.org/10.1016/j.ophtha.2019.04.032

    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] Investigation of the origin of p.R45W causative for Occult Macular Dystrophy (Miyake’s disease) in the East Asian population2019

    • Author(s)
      Fujinami-Yokokawa Y, Naka I, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Pontikos N, Miyata H, Ohashi J, Woo SJ, Sui R, Fujinami K; on behalf of East Asia Inherited Retinal Disease Society.
    • Organizer
      1st EAIRDs symposium
    • Int'l Joint Research
  • [Presentation] Ethnicity of pathogenic variants in the ABCA4 gene: analysis of allele frequency in the general population.2019

    • Author(s)
      Fujinami-Yokokawa Y, Naka I, Pontikos N, Arno G, Yang L, Liu X, Li Shiying, Woo SJ, Moya R, Tsunoda K, Miyata H, Ohashi J, Strauss RW, Scholl H, Michaelides M, Fujinami K.
    • Organizer
      The Association for Research in Vision and Ophthalmology 2020Annual Meeting
    • Int'l Joint Research
  • [Presentation] Electrically Evoked Potentials Elicited by Transcorneal Electrical Stimulation in Healthy Human Subjects; Comparison with Pattern Visual Evoked Potentials, Pattern Electroretinograms, and Photopic Negative Responses.2019

    • Author(s)
      Fujinami-Yokokawa Y, Fujinami K, Suzuki Y, Yang L, Liu X, Farmer J, Tsunoda K, Miyake Y.
    • Organizer
      57th ISCEV Symposium and Courses
    • Int'l Joint Research
  • [Presentation] Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-domain Optical Coherent Tomography Utilizing Deep Learning Techniques.2019

    • Author(s)
      Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K, Japan Eye Genetics Consortium OBO
    • Organizer
      The Association for Research in Vision and Ophthalmology 2019 Annual Meeting
    • Int'l Joint Research
  • [Presentation] Application of Artificial Intelligence in retinal vessels on fundus photography2019

    • Author(s)
      Fujinami-Yokokawa Y
    • Organizer
      The 1st retinal hemodynamics seminar
    • Int'l Joint Research / Invited
  • [Presentation] Application of Artificial Intelligence in Retinal Imaging2019

    • Author(s)
      Fujinami-Yokokawa Y
    • Organizer
      1st uk-Japane retinal hemodynamics symposium
    • Int'l Joint Research / Invited
  • [Presentation] Application of machine-learning for a diagnosis of inherited retinal disorders by next-generation retinal imaging2019

    • Author(s)
      Fujinami-Yokokawa Y
    • Organizer
      Japanese Society of Hemorheology Annual Meeting 2019
    • Invited
  • [Presentation] Genotype Phenotype Association in East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.42019

    • Author(s)
      Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Kondo M, Arno G, Liu X, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Park KH, Naka I, Ohashi J, Miyake Y, Pontikos N, Miyata H, Woo SJ, Sui R, Fujinami K; on behalf of East Asia Inherited Retinal Disease Society
    • Organizer
      1st EAIRDs symposium
    • Int'l Joint Research
  • [Presentation] Clinical and Genetic Characteristics of East Asian Patients with Stargardt disease; EAStar Report No.1.2019

    • Author(s)
      Liu X, Joo K, Fujinami-Yokokawa Y, Yin Z, Woo SJ, Li S, Fujinami K.
    • Organizer
      57th ISCEV Symposium and Courses
    • Int'l Joint Research
  • [Presentation] Multimodal imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease): EAOMD Report No. 3.2019

    • Author(s)
      Joo K, Yang L, Kim MS, Mun YS, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Liu X, Kurihara T, Tsubota K, Yoshitake K, Iwata T, Yamazawa K, Zou X, Li H, Robson AG, Miyake Y, Park KH, Sui R, Fujinami K, Woo SJ; on behalf of East Asia Inherited Retinal Disease Society.
    • Organizer
      57th ISCEV Symposium and Courses
    • Int'l Joint Research
  • [Presentation] ke Y, Woo SJ, Sui R, Fujinami K; on behalf of East Asia Inherited Retinal Disease Society. Spectrum of Occult Macular Dystrophy: Investigation of RP1L1 Positive and RP1L1 Negative OMD; EAOMD Report No.5.2019

    • Author(s)
      Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Liu X, Kurihara T, Tsubota K, Yoshitake K, Iwata T, Yamazawa K, Zou X, Li H, Park KH, Kim MS, Mun YS, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K; on behalf of East Asia Inherited Retinal Disease Society.
    • Organizer
      57th ISCEV Symposium and Courses
    • Int'l Joint Research
  • [Presentation] Full-Field Pupillary Light Responses and Full-Field Scotopic Thresholds (FST) for Colour Stimuli in Healthy Human Subjects.2019

    • Author(s)
      Suzuki Y, Yang L, Fujinami-Yokokawa Y, Liu X, Suzuki M, Farmer J, Tsunoda K, Fujinami K.
    • Organizer
      57th ISCEV Symposium and Courses
    • Int'l Joint Research
  • [Presentation] Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1.2019

    • Author(s)
      Fujinami K, Yang L, Joo K, Tsunoda K, Kameya S, Hanazono G, Fujinami-Yokokawa Y, Arno G, Kondo M, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Iwata T, Miyake Y, Woo SJ, Sui R; on behalf of East Asia Inherited Retinal Disease Society.
    • Organizer
      1st EAIRDs symposium
    • Int'l Joint Research
  • [Presentation] Clinical and Genetic Characteristics of East Asian Patients with Stargardt disease; EAStar Report No.1.2019

    • Author(s)
      Fujinami K, Liu X, Joo K, Fujinami-Yokokawa Y, Yang L, Tsunoda K, Arno G, Pontikos N, Kurihara T, Tsubota K, Hayashi T, Ueno S, Kuniyoshi K, Shinoda K, Mizota A, Kondo M, Park KH, Ma DJ, Yu HG, Miyake Y, Iwata T, Yin Z, Woo SJ, Li J.
    • Organizer
      1st EAIRDs symposium
    • Int'l Joint Research
  • [Presentation] Spectrum of Occult Macular Dystrophy: Investigation of RP1L1 Positive and RP1L1 Negative OMD; EAOMD Report No.5.2019

    • Author(s)
      Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Liu X, Kurihara T, Tsubota K, Yoshitake K, Iwata T, Yamazawa K, Zou X, Li H, Park KH, Kim MS, Mun YS, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K; on behalf of East Asia Inherited Retinal Disease Society.
    • Organizer
      1st EAIRDs symposium
    • Int'l Joint Research
  • [Presentation] Multimodal imaging of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease): EAOMD Report No. 3.2019

    • Author(s)
      Joo K, Yang L, Tsunoda K, Kondo M, Fujinami(Yokokawa) Y, Arno G, Kurihara T, Tsubota K, Iwata T, Zou X, Li H, Park KH, Miyake Y, Fujinami K, Sui R, Woo SJ. EAIRD (East Asia Inherited Retinal) Study Groups
    • Organizer
      The Association for Research in Vision and Ophthalmology 2019 Annual Meeting
    • Int'l Joint Research
  • [Book] Stargardt disease in Asian population. Advances in Vision Research, Volume II.2019

    • Author(s)
      Liu X, Fujinami (Yokokawa) Y, Yang L, Arno G, Fujinami K
    • Total Pages
      17
    • Publisher
      Springer
  • [Book] 診療で役立つ! 近視進行予防のサイエンス3章(1)2019

    • Author(s)
      藤波芳、姜効炎、楊麗珠、劉霄、藤波(横川)優.
    • Total Pages
      5
    • Publisher
      金原出版
    • ISBN
      978-4-307-35171-3

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Published: 2021-01-27  

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