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Ophthalmological and systemic investigations of autosomal dominant optic atrophy with OPA1 mutations.

Research Project

Project/Area Number 26462674
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Ophthalmology
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

Tsunoda Kazushige  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), その他部局等, 部長 (30255525)

Co-Investigator(Kenkyū-buntansha) 林 孝彰  東京慈恵会医科大学, 医学部, 講師 (10297418)
Research Collaborator 大出 尚郎  慶應義塾大学
松永 達雄  東京医療センター
安富 大祐  東京医療センター
Project Period (FY) 2014-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywords優性視神経萎縮症 / OPA1 / 常染色体優性視神経萎縮症 / DOA-Plus disease / Auditory Neuropathy / OPA1遺伝子
Outline of Final Research Achievements

We have investigated systemic complications of autosomal dominant optic atrophy (DOA) in the JEGC cohort with 30 institutes. Three cases with DOA-plus disease were included, and all of them had AN. One case had both ataxia and progressive extraocular ophthalmoplegia. In the genetic analysis of 31 cases with all the DOA in National Institute of Sensory Organs and Jikei medical school, type of variants was either missense, nonsense, splice-site, or in-del. However, Patients with DOA-plus harbored only missense mutations.

Report

(5 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (41 results)

All 2017 2016 2015 2014

All Journal Article (19 results) (of which Peer Reviewed: 14 results,  Open Access: 6 results,  Acknowledgement Compliant: 4 results) Presentation (19 results) (of which Int'l Joint Research: 3 results) Book (3 results)

  • [Journal Article] Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.2017

    • Author(s)
      Hayashi T, Sasano H, Katagiri S, Tsunoda K, Kameya S, Nakazawa M, Iwata T, Tsuneoka H.
    • Journal Title

      Jpn J Ophthalmol.

      Volume: 61 Issue: 5 Pages: 483-488

    • DOI

      10.1007/s10384-017-0522-0

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy.2017

    • Author(s)
      Kato Y, Hanazono G, Fujinami K, Hatase T, Kawamura Y, Iwata T, Miyake Y, Tsunoda K.
    • Journal Title

      Invest Ophthalmol Vis Sci

      Volume: 58(14) Issue: 14 Pages: 6020-6029

    • DOI

      10.1167/iovs.17-21969

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Evaluation of cone function by a handheld non-mydriatic flicker electroretinogram device2016

    • Author(s)
      Natsuko Nakamura, Kaoru Fujinami, Yoshinobu Mizuno, Toru Noda, Kazushige Tsunoda
    • Journal Title

      Clinical Ophthalmology

      Volume: 10 Pages: 1175-85

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy2016

    • Author(s)
      Iida K, Ohkuma Y, Hayashi T, Katagiri S, Fujita T, Tsunoda K,Yamada H, Tsuneoka H
    • Journal Title

      Ophthalmic Genet

      Volume: 37 Pages: 354-6

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.2016

    • Author(s)
      Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y.
    • Journal Title

      Jpn J Ophthalmol

      Volume: 60 Issue: 3 Pages: 187-197

    • DOI

      10.1007/s10384-016-0424-6

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease.2015

    • Author(s)
      Kato Y, Tsunoda K, Fujinami K, Iwata T, Saga M, Oguchi Y.
    • Journal Title

      Invest Ophthalmol Vis Sci.

      Volume: Apr;56(4) Issue: 4 Pages: 2162-72

    • DOI

      10.1167/iovs.14-16198

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Occult macular dystrophy2015

    • Author(s)
      Miyake Y and Tsunoda K
    • Journal Title

      Japanese Journal of Ophthalmology

      Volume: 59(2): Issue: 2 Pages: 71-80

    • DOI

      10.1007/s10384-015-0371-7

    • NAID

      40020401023

    • Related Report
      2015 Research-status Report 2014 Research-status Report
  • [Journal Article] Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).2015

    • Author(s)
      Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T.
    • Journal Title

      Ophthalmic Genet.

      Volume: Jun;36(2) Issue: 2 Pages: 137-44

    • DOI

      10.3109/13816810.2014.991932

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.2015

    • Author(s)
      Kuniyoshi K, Sakuramoto H, Yoshitake K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T.
    • Journal Title

      Doc Ophthalmol.

      Volume: Aug;131(1) Issue: 1 Pages: 71-9

    • DOI

      10.1007/s10633-015-9497-7

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy.2015

    • Author(s)
      Nakanishi A, Ueno S, Kawano K, Ito Y, Kominami T, Yasuda S, Kondo M, Tsunoda K, Iwata T, Terasaki H.
    • Journal Title

      Invest Ophthalmol Vis Sci.

      Volume: Nov;56(12) Issue: 12 Pages: 7243-9

    • DOI

      10.1167/iovs.15-16742

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] オカルト黄斑ジストロフィ(三宅病)2015

    • Author(s)
      角田和繁
    • Journal Title

      日本の眼科

      Volume: 86 (8) Pages: 48-49

    • NAID

      10029525854

    • Related Report
      2015 Research-status Report
  • [Journal Article] 卵黄様黄斑ジストロフィ2015

    • Author(s)
      角田和繁
    • Journal Title

      眼科

      Volume: 57 (4) Pages: 641-645

    • Related Report
      2015 Research-status Report
  • [Journal Article] Clinical and Molecular Characteristics of Childhood-onset Stargardt Disease.2015

    • Author(s)
      Fujinami K, Jana Zernant, Ravinder K Chana, Genevieve A Wright, Tsunoda K, Ozawa Y, Tsubota K, Anthony G Robson, Graham E Holder, Rando Allikmets, Michel Michaelides, FACS; Anthony T Moore.
    • Journal Title

      Ophthalmology.

      Volume: 122 Issue: 2 Pages: 326-334

    • DOI

      10.1016/j.ophtha.2014.08.012

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy Documenta Ophthalmologica.2015

    • Author(s)
      Kuniyoshi K, Ikeo K, Sakuramoto H, Furuno M, Yoshitake K, Hatsukawa Y, Nakao A, Kusaka S, Shimomura Y, Iwata T.
    • Journal Title

      Documenta Ophthalmologica

      Volume: 130 Issue: 1 Pages: 49-55

    • DOI

      10.1007/s10633-014-9464-8

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Congenital achromatopsia and macular atrophy caused by a novel recessive PDE6C mutation (p.E591K)2015

    • Author(s)
      Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Yuri Sergeev, Masakazu Akahori, Masaaki Furuno, Jo Nishino, Kazuho Ikeo, Kazushige Tsunoda, Hiroshi Tsuneoka, and Takeshi Iwata
    • Journal Title

      Ophthalmic Genetics

      Volume: 21 Pages: 1-8

    • Related Report
      2014 Research-status Report
  • [Journal Article] Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early onset retinal dystrophy with RDH12 mutation2014

    • Author(s)
      Kazuki Kuniyoshi, Hiroyuki Sakuramoto, Kazutoshi Yoshitake, Kosuke Abe, Kazuho Ikeo, Masaaki Furuno, Kazushige Tsunoda, Shunji Kusaka, Yoshikazu Shimomura, Takeshi Iwata
    • Journal Title

      Documenta Ophthalmologica

      Volume: Volume 128, Issue 3, Issue: 3 Pages: 219-228

    • DOI

      10.1007/s10633-014-9436-z

    • Related Report
      2014 Research-status Report
  • [Journal Article] Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa2014

    • Author(s)
      Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
    • Journal Title

      Plos One

      Volume: 9(9) Issue: 9 Pages: e108721-e108721

    • DOI

      10.1371/journal.pone.0108721

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Clinical course of focal choroidal excavation in Vogt-Koyanagi-Harada disease.2014

    • Author(s)
      Nishikawa Y, Fujinami K, Watanabe K, Noda T, Tsunoda K, Akiyama K.
    • Journal Title

      Clin Ophthalmol.

      Volume: 8 Pages: 2461-5

    • DOI

      10.2147/opth.s75558

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] Fundus auofluorescence imaging in patient with juvenile form of galactosialidosis2014

    • Author(s)
      Yamazaki R, Tsunoda K, Fujinami K, Noda T et al.
    • Journal Title

      Ophthalmic Surgery Lasers & Imaging Retina

      Volume: in press Issue: 3 Pages: 259-61

    • DOI

      10.3928/23258160-20140425-01

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Presentation] Auditory neuropathyを合併した常染色体優性視神経萎縮症の3例2017

    • Author(s)
      前田亜希子, 中村奈津子, 藤波芳, 野田徹, 松永達雄, 加我君孝, 林孝彰, 冲永聡子, 角田和繁
    • Organizer
      第65回日本臨床視覚電気生理学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] OPA1遺伝子欠失を認めた常染色体優性視神経萎縮の家系2016

    • Author(s)
      林孝彰、笹野紘之、吉田希望、片桐聡、角田和繁、常岡寛
    • Organizer
      第70回日本臨床眼科学会
    • Place of Presentation
      京都
    • Related Report
      2016 Research-status Report
  • [Presentation] RETeval Complete™により診断に至った遺伝性網膜疾患の小児例2015

    • Author(s)
      中村奈津子、玉置惣一朗、野田徹、藤波芳、角田和繁
    • Organizer
      第63回日本臨床視覚電気生理学会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-08-29
    • Related Report
      2015 Research-status Report
  • [Presentation] Japan whole exome project for inherited retinal diseases 20142015

    • Author(s)
      藤波芳、林孝彰、國吉一樹、近藤峰生、上野真治、篠田啓、坪田一男、岩田岳、三宅養三、角田和繁
    • Organizer
      第63回日本臨床視覚電気生理学会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-08-29
    • Related Report
      2015 Research-status Report
  • [Presentation] ‘Screening of cone dysfunction by a handheld ERG device, RETevalTM.’2015

    • Author(s)
      Tamaki S, Nakamura N, Mizuno Y, Noda T, Fujinami K, Tsunoda K.
    • Organizer
      ISCEV symposium 2015 (International Society for Clinical Electrophysiology of Vision)
    • Place of Presentation
      Ljubljana, Slovenia
    • Year and Date
      2015-07-22
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Japan whole exome project for inherited retinal diseases 20142015

    • Author(s)
      Fujinami K, Hayashi T, Kuniyoshi K, Kondo M, Ueno S, Shinoda K, Tsubota K, Miyake Y, Tsunoda K, Iwata T.
    • Organizer
      ISCEV symposium 2015 (International Society for Clinical Electrophysiology of Vision)
    • Place of Presentation
      Ljubljana, Slovenia
    • Year and Date
      2015-07-22
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Japan Whole Exome Project for Inherited Retinal Diseases 20142015

    • Author(s)
      Fujinami K, Hayashi T, Kuniyoshi K, Kondo M, Ueno S, Shinoda K, Tsubota K, Miyake Y, Tsunoda K, Iwata T.
    • Organizer
      ARVO annual meeting 2015 (The Association for Research in Vision and Ophthalmology)
    • Place of Presentation
      Denver, Colorado, USA
    • Year and Date
      2015-05-03
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] 「遺伝性網膜疾患、最新のgenotyping」 「オカルト黄斑ジストロフィー」2014

    • Author(s)
      角田和繁
    • Organizer
      第62回日本臨床視覚電気生理学会
    • Place of Presentation
      東京都墨田区
    • Year and Date
      2014-10-03 – 2014-10-04
    • Related Report
      2014 Research-status Report
  • [Presentation] 中心窩機能温存型黄斑ジストロフィ2014

    • Author(s)
      藤波芳、後藤聡、赤堀正和、小沢洋子、坪田一男、野田徹、岩田岳、三宅養三、角田和繁
    • Organizer
      第62回日本臨床視覚電気生理学会
    • Place of Presentation
      東京都墨田区
    • Year and Date
      2014-10-03 – 2014-10-04
    • Related Report
      2014 Research-status Report
  • [Presentation] Unilateral Cone-rod Dysfunction associated with Electronegative bright flash Electroretinography2014

    • Author(s)
      Toshihiko Hirakata, Kaoru Fujinami, Yu Kato, Natsuko Nakamura, Toru Noda, Akito Hirakata, Shinji Ueno, Hiroshi Ohguro, Yozo Miyake, Kazushige Tsunoda
    • Organizer
      ISCEV
    • Place of Presentation
      Boston,USA
    • Year and Date
      2014-07-21 – 2014-07-24
    • Related Report
      2014 Research-status Report
  • [Presentation] Clinical and Genetic Characteristics of Childhood-onset Stargardt Disease.2014

    • Author(s)
      Fujinami K, Zernant J, Ozawa Y, Tsunoda K, Tsubota K, Robson AG,, Alikmets R, Michaelides M, Moore AT, Holder GE
    • Organizer
      ISCEV
    • Place of Presentation
      Boston,USA
    • Year and Date
      2014-07-21 – 2014-07-24
    • Related Report
      2014 Research-status Report
  • [Presentation] Novel funduscopic features in patients with Oguchi’s disease.2014

    • Author(s)
      Kato Y, Tsunoda K, Fujinami K, Noda T, Oguchi Y.
    • Organizer
      ISCEV
    • Place of Presentation
      Boston,USA
    • Year and Date
      2014-07-21 – 2014-07-24
    • Related Report
      2014 Research-status Report
  • [Presentation] Observations of cone photoreceptor by adaptive optics fundus camera in eyes with occult macular dystrophy2014

    • Author(s)
      Nakanishi A, Ueno S, Kawano K, Ito Y, Tsunoda K, Akahori M, Iwata T, Terasaki H
    • Organizer
      ARVO 2014 Annual Meeting
    • Place of Presentation
      Orlando, USA
    • Year and Date
      2014-05-04 – 2014-05-08
    • Related Report
      2014 Research-status Report
  • [Presentation] Efficacy of Aflibercept in Japanese Patients with Polypoidal Choroidal Vasculopathy Insensitive to Ranibizumab Treatment (poster).2014

    • Author(s)
      Toshiaki Hirakata, Yuko Nishikawa, Kaoru Fujinami, Ken Watanabe, Kazushige Tsunoda, Toru Noda, Kunihiko Akiyama.
    • Organizer
      ARVO 2014 Annual Meeting
    • Place of Presentation
      Orlando, USA
    • Year and Date
      2014-05-04 – 2014-05-08
    • Related Report
      2014 Research-status Report
  • [Presentation] Clinical and Genetic Characteristics of Childhood-onset Stargardt Disease2014

    • Author(s)
      Fujinami K, Zernant J, Ozawa Y, Tsubota K, Robson AG, Holder GE, Webster AR, Alikmets R, Michaelides M, Moore AT
    • Organizer
      ARVO 2014 Annual Meeting
    • Place of Presentation
      Orlando, USA
    • Year and Date
      2014-05-04 – 2014-05-08
    • Related Report
      2014 Research-status Report
  • [Presentation] The case of occult macular dystrophy which developed local retinal detachment at fovea with vitreous traction2014

    • Author(s)
      Kato Y, Fujinami K, Noda T, Akahori M, Iwata T, Miyake Y, Tsunoda K
    • Organizer
      ARVO 2014 Annual Meeting
    • Place of Presentation
      Orlando, USA
    • Year and Date
      2014-05-04 – 2014-05-08
    • Related Report
      2014 Research-status Report
  • [Presentation] Case report of Monocular rod-cone dystrophy, which suspected Melanoma associated retinopathy.2014

    • Author(s)
      Toshihiko Hirakata, Kaoru Fujinami, Kazunori Tsunoda, Akito Hirakata, Yozo Miyake
    • Organizer
      World Ophthalmology Congress of the International Council of Ophthalmology
    • Place of Presentation
      Tokyo
    • Year and Date
      2014-04-02 – 2014-04-06
    • Related Report
      2014 Research-status Report
  • [Presentation] Siblings with Childhood-Onset Stargardt Disease Associated with External Limiting Membrane Thickening2014

    • Author(s)
      Ikko Iehisa, Kaoru Fujinami, Natsuko Nakamura, Toru Noda, Kazushige Tsunoda
    • Organizer
      World Ophthalmology Congress of the International Council of Ophthalmology
    • Place of Presentation
      Tokyo
    • Year and Date
      2014-04-02 – 2014-04-06
    • Related Report
      2014 Research-status Report
  • [Presentation] Fundus Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease).2014

    • Author(s)
      Kato Y, Fujinami K, Noda T, Miyake Y, Tsunoda K
    • Organizer
      World Ophthalmology Congress of the International Council of Ophthalmology
    • Place of Presentation
      Tokyo
    • Year and Date
      2014-04-02 – 2014-04-06
    • Related Report
      2014 Research-status Report
  • [Book] Fundus Autofluorescence2014

    • Author(s)
      Kazushige Tsunoda
    • Total Pages
      200
    • Publisher
      Lippincott, Williams and Wilkins
    • Related Report
      2014 Research-status Report
  • [Book] 眼科臨床クローズアップ2014

    • Author(s)
      角田和繁
    • Total Pages
      250
    • Publisher
      メジカルビュー社
    • Related Report
      2014 Research-status Report
  • [Book] 眼科グラフィック2014

    • Author(s)
      角田和繁
    • Total Pages
      300
    • Publisher
      メディカ出版
    • Related Report
      2014 Research-status Report

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Published: 2014-04-04   Modified: 2019-05-08  

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