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Hayashi Takaaki  林 孝彰

… Alternative Names

HAYASHI Takaaki  林 孝彰

林 孝彰  ハヤシ タカアキ

Less
Researcher Number 10297418
Other IDs
  • ORCIDhttps://orcid.org/0000-0002-1535-0279
External Links
Affiliation (Current) 2025: 東京慈恵会医科大学, 医学部, 教授
Affiliation (based on the past Project Information) *help 2021 – 2024: 東京慈恵会医科大学, 医学部, 教授
2016 – 2019: 東京慈恵会医科大学, 医学部, 准教授
2017: 東京慈恵会医科大学, 医学部, 講師
2013 – 2015: 東京慈恵会医科大学, 医学部, 講師
2007 – 2009: Jikei University School of Medicine, 医学部, 講師 … More
2003 – 2005: 東京慈恵会医科大学, 医学部, 講師
2002: 東京慈恵会医科大学, 医学部, 助手
1998: 慈恵医大, 医学部, 助手 Less
Review Section/Research Field
Principal Investigator
Ophthalmology / Basic Section 56060:Ophthalmology-related / Ophthalmology
Except Principal Investigator
Ophthalmology / Basic Section 56060:Ophthalmology-related
Keywords
Principal Investigator
次世代シークエンサ / 黄斑ジストロフィ / 全エクソーム解析 / 網膜色素変性 / 遺伝子変異 / 遺伝性網膜疾患 / 遺伝性網膜ジストロフィ / 遺伝子解析 / 錐体杆体ジストロフィ / 遺伝子 … More / 分子遺伝学 / 遺伝子診断 / 先天色覚異常 / 遺伝学的検査 / 視サイクル / ベータカロテン治療 / 遺伝子治療 / 錐体機能 / 黄斑 / 網膜 / 遺伝学 / 全エクソン解析 / 青錐体一色覚 / 杆体一色覚 / 黄斑萎縮 / 網膜電図 / 錐体ジストロフィ / Leber先天盲 / 臨床遺伝学 / エクソーム解析 / ヒトゲノム / 先天盲 / 家族歴 / 遺伝性疾患 / 変異 / RPE65変異 / CNGA1変異 / 脳回状脈絡膜萎縮 / 分子遺伝学的 / レーベル先天黒内障 / 色覚異常 / 網膜変性 / 黄斑変性 / 遺伝性網脈絡膜疾患 / 錐体機能付箋 / GNAT2遺伝子 / CNGB3遺伝子 / CNGA3遺伝子 / 錐体機能不全 / 常染色体劣性遺伝 / 杆体一色型色覚 / X連鎖劣性遺伝 / 赤・緑視物質遺伝子 / 保因者診断 … More
Except Principal Investigator
網膜電図 / 遺伝子検索 / 遺伝性視神経ジストロフィ / 網膜色素変性 / 全ゲノム解析 / 光干渉断層計検査(OCT) / 網膜電図(ERG) / KCNV2 / ABCA4 / 先天網膜分離症 / 遺伝性網膜ジストロフィ / 遺伝学 / 医療・福祉 / 視力 / 視野 / COL2A1 / 遺伝子 / 光干渉断層計 / 網膜剥離 / 眼底自発蛍光 / 黄斑低形成 / OCT / 光干渉断層 / COL2A1遺伝子 / 遺伝子解析 / Stickler症候群 / 網膜剥離の予防 / 網膜変性 / 臨床診断 / 遺伝子診断 / OPA1遺伝子 / Auditory Neuropathy / DOA-Plus disease / 常染色体優性視神経萎縮症 / OPA1 / 優性視神経萎縮症 Less
  • Research Projects

    (11 results)
  • Research Products

    (216 results)
  • Co-Researchers

    (25 People)
  •  Foundational research aimed at elucidating the pathogenesis based on the genotype of macular dystrophy and constructing a databasePrincipal Investigator

    • Principal Investigator
      林 孝彰
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56060:Ophthalmology-related
    • Research Institution
      Jikei University School of Medicine
  •  遺伝性網膜・視神経ジストロフィの症例収拾および疾患別頻度の検討

    • Principal Investigator
      國吉 一樹
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56060:Ophthalmology-related
    • Research Institution
      Kindai University
  •  Whole exome sequencing and identification of disease phenotypes for the treatment of progressive inherited retinal disordersPrincipal Investigator

    • Principal Investigator
      Hayashi Takaaki
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56060:Ophthalmology-related
    • Research Institution
      Jikei University School of Medicine
  •  Clinical and genetic characterization of inherited cone dysfunction syndromePrincipal Investigator

    • Principal Investigator
      Hayashi Takaaki
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Jikei University School of Medicine
  •  Clinical and genetic research for the treatment of retinal detachment in Stickler syndrome

    • Principal Investigator
      Kondo Hiroyuki
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      University of Occupational and Environmental Health, Japan
  •  Ophthalmological and systemic investigations of autosomal dominant optic atrophy with OPA1 mutations.

    • Principal Investigator
      Tsunoda Kazushige
    • Project Period (FY)
      2014 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • 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)
  •  Molecular genetic study for retinitis pigmentosaPrincipal Investigator

    • Principal Investigator
      Hayashi Takaaki
    • Project Period (FY)
      2013 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Jikei University School of Medicine
  •  Relationship between genetypes and phenotypes in patients with retinal dystrophiesPrincipal Investigator

    • Principal Investigator
      HAYASHI Takaaki
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Jikei University School of Medicine
  •  杆体一色型色覚の表現型と遺伝子型の関連性についての研究Principal Investigator

    • Principal Investigator
      林 孝彰
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Jikei University School of Medicine
  •  先天色覚異常および保因者の遺伝子診断法の確立Principal Investigator

    • Principal Investigator
      林 孝彰
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Jikei University School of Medicine
  •  色素色色覚異常における赤緑視物質遺伝子の構造解析Principal Investigator

    • Principal Investigator
      林 孝彰
    • Project Period (FY)
      1998
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Ophthalmology
    • Research Institution
      Jikei University School of Medicine

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2010 2009 2008 2007 2005 2004 Other

All Journal Article Presentation Book Other

  • [Book] 眼科検査ガイド 第3版2022

    • Author(s)
      林孝彰.遺伝子検査. 飯田知弘,近藤峰生,中村誠,山田昌和編
    • Total Pages
      6
    • Publisher
      文光堂
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Book] 黄斑疾患診療A to Z 第2版2022

    • Author(s)
      林孝彰.白点状眼底. 岸章治,吉村長久編
    • Total Pages
      6
    • Publisher
      医学書院
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Book] ファーストステップ!子どもの視機能をみる-スクリーニングと外来診療-2022

    • Author(s)
      林孝彰.仁科幸子,林思音編
    • Total Pages
      4
    • Publisher
      全日本病院出版会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Book] 「眼科診療のコツと落とし穴シリーズ」3巻『眼科検査・診断のコツと落とし穴』2008

    • Author(s)
      林 孝彰
    • Total Pages
      4
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Book] 今日の眼疾患治療指針 第2版2007

    • Author(s)
      林 孝彰
    • Total Pages
      9
    • Publisher
      医学書院
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] Genetic and clinical features of ABCA4-associated retinopathy in a Japanese nationwide cohort2024

    • Author(s)
      Kei Mizobuchi1 Takaaki Hayashi, Koji Tanaka, Kazuki Kuniyosh4, Yusuke Murakami, Natsuko Nakamura, Kaoruko Torii, Atsushi Mizota, Daiki Sakai, Akiko Maeda, Taro Kominami, Shinji Ueno, Shunji Kusaka, Koji M Nishiguchi, Yasuhiro Ikeda, Mineo Kondo, Kazushige Tsunoda, Yoshihiro Hotta, Tadashi Nakano
    • Journal Title

      Am J Ophthalmol.

      Volume: 16:264 Pages: 36-43

    • DOI

      10.1016/j.ajo.2024.03.007

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K09712, KAKENHI-PROJECT-22K09788, KAKENHI-PROJECT-22K09825
  • [Journal Article] Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy2024

    • Author(s)
      Sato, T., Kuniyoshi, K., Hayashi, T., Nishiwaki, H., Mizobuchi, K., & Kusaka, S.
    • Journal Title

      Documenta Ophthalmologica

      Volume: Apr 17 Issue: 3 Pages: 173-182

    • DOI

      10.1007/s10633-024-09971-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22K09825
  • [Journal Article] A novel stop-gain <i>NF1</i> variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas2023

    • Author(s)
      Fukunaga Naoko、Hayashi Takaaki、Yamada Yuki、Mizobuchi Kei、Ohta Arihito、Nakano Tadashi
    • Journal Title

      Ophthalmic Genetics

      Volume: 45 Issue: 2 Pages: 186-192

    • DOI

      10.1080/13816810.2023.2245464

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.2023

    • Author(s)
      Torii K, Nishina S, Morikawa H, Mizobuchi K, Takayama M, Tachibana N, Kurata K, Hikoya A, Sato M, Nakano T, Fukami M, Azuma N, Hayashi T, Saitsu H, Hotta Y.
    • Journal Title

      Int J Mol Sci

      Volume: 24 Issue: 18 Pages: 13678-13678

    • DOI

      10.3390/ijms241813678

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22K19606, KAKENHI-PROJECT-22K09848, KAKENHI-PROJECT-23K09041, KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-21K09756, KAKENHI-PROJECT-20H03845, KAKENHI-PROJECT-23K27566
  • [Journal Article] A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function2023

    • Author(s)
      Hayashi Takaaki、Mizobuchi Kei、Kameya Shuhei、Ueno Shinji、Matsuura Tomokazu、Nakano Tadashi
    • Journal Title

      Documenta Ophthalmologica

      Volume: 147 Issue: 1 Pages: 59-70

    • DOI

      10.1007/s10633-023-09936-9

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia2023

    • Author(s)
      Matsushita Itsuka、Izumi Hiroto、Ueno Shinji、Hayashi Takaaki、Fujinami Kaoru、Tsunoda Kazushige、Iwata Takeshi、Kiuchi Yoshiaki、Kondo Hiroyuki
    • Journal Title

      Genes

      Volume: 14 Issue: 7 Pages: 1483-1483

    • DOI

      10.3390/genes14071483

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19)2023

    • Author(s)
      Mizobuchi Kei、Hayashi Takaaki、Ohira Ryo、Nakano Tadashi
    • Journal Title

      Documenta Ophthalmologica

      Volume: 146 Issue: 3 Pages: 281-291

    • DOI

      10.1007/s10633-023-09935-w

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] One-Year Outcomes of Oral Treatment With Alga Capsules Containing Low Levels of 9-cis-β-Carotene in RDH5-Related Fundus Albipunctatus2023

    • Author(s)
      Mizobuchi Kei、Hayashi Takaaki、Ueno Shinji、Kondo Mineo、Terasaki Hiroko、Aoki Takuya、Nakano Tadashi
    • Journal Title

      American Journal of Ophthalmology

      Volume: 254 Pages: 193-202

    • DOI

      10.1016/j.ajo.2023.06.013

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22K09788, KAKENHI-PROJECT-21K09756
  • [Journal Article] Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis2023

    • Author(s)
      Nakajima, A., Kuniyoshi, K., Iwahashi, C., Mano, F., Hayashi, T., Kondo, H., Mizobuchi, K., Matsushita, I., Suga, A., Yoshitake, K., Nakano, T., Iwata, T., Matsumoto, C. and Kusaka, S.
    • Journal Title

      Frontiers in Medicine

      Volume: 10 Pages: 1280564-1280564

    • DOI

      10.3389/fmed.2023.1280564

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22K09825
  • [Journal Article] OPA1遺伝子に新規de novo変異が見出された両眼視神経萎縮の男児例2022

    • Author(s)
      林孝彰、溝渕圭、亀谷修平、吉田正樹、中野匡
    • Journal Title

      日本眼科学会雑誌

      Volume: 126 Pages: 983-990

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] 【指定難病と医療費助成】黄斑ジストロフィ2022

    • Author(s)
      林 孝彰
    • Journal Title

      あたらしい眼科

      Volume: 39 Pages: 1595-1604

    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] 日本人症例におけるRP1関連網膜ジストロフィの遺伝子型と表現型に関する最新の知見2022

    • Author(s)
      溝渕 圭 , 林 孝彰 , 中野 匡
    • Journal Title

      東京慈恵会医科大学雑誌

      Volume: 137 Pages: 15-26

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family2022

    • Author(s)
      Mizobuchi Kei、Hayashi Takaaki、Matsuura Tomokazu、Nakano Tadashi
    • Journal Title

      Documenta Ophthalmologica

      Volume: 144 Issue: 3 Pages: 227-235

    • DOI

      10.1007/s10633-022-09874-y

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy2022

    • Author(s)
      Enomoto Nobuko、Hayashi Takaaki、Matsuura Tomokazu、Tanaka Koji、Takeuchi Remi、Tomita Goji、Mori Ryusaburo
    • Journal Title

      Documenta Ophthalmologica

      Volume: 144 Issue: 1 Pages: 67-75

    • DOI

      10.1007/s10633-021-09859-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] 日本人enhanced S-cone syndromeの臨床的および遺伝学的特徴2022

    • Author(s)
      林孝彰、溝渕圭、亀谷修平、國吉一樹、日下俊次、上野真治、西口康二、三宅養三、中野匡
    • Journal Title

      日本眼科学会雑誌

      Volume: 126 Pages: 7-18

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] 黄色斑眼底に類似したパターンジストロフィの1例2022

    • Author(s)
      齊藤友香、林孝彰、溝渕圭、田中公二、郡司久人、中野匡
    • Journal Title

      日本眼科学会雑誌

      Volume: 126 Pages: 588-595

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Bardet?Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene2022

    • Author(s)
      Morohashi Tamaki、Hayashi Takaaki、Mizobuchi Kei、Nakano Tadashi、Morioka Ichiro
    • Journal Title

      Documenta Ophthalmologica

      Volume: 146 Issue: 2 Pages: 165-171

    • DOI

      10.1007/s10633-022-09915-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] 日本人enhanced S-cone syndromeの臨床的および遺伝学的特徴2022

    • Author(s)
      林孝彰,溝渕圭,亀谷修平,國吉一樹,他
    • Journal Title

      日本眼科学会雑誌

      Volume: 126 Pages: 7-18

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22K09825
  • [Journal Article] Case Report: Improved Choroidal Circulation in a Patient with Unilateral Acute Idiopathic Maculopathy2022

    • Author(s)
      Sotozono Akiko、Mizobuchi Kei、Hayashi Takaaki、Shikauchi Mamiko、Nakano Tadashi
    • Journal Title

      Optometry and Vision Science

      Volume: 99 Issue: 9 Pages: 730-734

    • DOI

      10.1097/opx.0000000000001931

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing2022

    • Author(s)
      Suga Akiko、Yoshitake Kazutoshi、Fukuchi Takeo、Hatase Tetsuhisa、Horiguchi Masayuki、Shimada Yoshiaki、Tanikawa Atsuhiro、Yamamoto Shuichi、Miura Gen、Ito Nana、Murakami Akira、Fujimaki Takuro、Hotta Yoshihiro、Tanaka Koji、Iwata Takeshi、他
    • Journal Title

      Human Mutation

      Volume: 43 Issue: 12 Pages: 2251-2264

    • DOI

      10.1002/humu.24492

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-21K09756, KAKENHI-PROJECT-22K09764, KAKENHI-PROJECT-22K09788, KAKENHI-PROJECT-22K09825, KAKENHI-PROJECT-18K09432, KAKENHI-PROJECT-20K09818
  • [Journal Article] Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy2022

    • Author(s)
      Iida Yuka、Hayashi Takaaki、Tokuhisa Teruaki、Mizobuchi Kei、Omoto Shusaku、Nakano Tadashi
    • Journal Title

      Documenta Ophthalmologica

      Volume: 144 Issue: 3 Pages: 217-226

    • DOI

      10.1007/s10633-022-09867-x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Broad locations of antigenic regions for anti-TRPM1 autoantibodies in paraneoplastic retinopathy with retinal ON bipolar cell dysfunction2021

    • Author(s)
      Gyoten D, Ueno S, Okado S, Chaya T, Yasuda S, Morimoto T, Kondo M, Kimura K, Hayashi T, Leroy BP, Woo SJ, Mukai R, Joo K, Furukawa T.
    • Journal Title

      Exp Eye Res

      Volume: 212 Pages: 108770-108770

    • DOI

      10.1016/j.exer.2021.108770

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18H02954, KAKENHI-PROJECT-21H02657, KAKENHI-PROJECT-20K07326, KAKENHI-PROJECT-21K09756
  • [Journal Article] A new PDE6A missense variant p.Arg544Gln in rod?cone dystrophy2021

    • Author(s)
      Hayashi Takaaki、Mizobuchi Kei、Kameya Shuhei、Yoshitake Kazutoshi、Iwata Takeshi、Nakano Tadashi
    • Journal Title

      Documenta Ophthalmologica

      Volume: online ahead Issue: 1 Pages: 107-114

    • DOI

      10.1007/s10633-021-09826-y

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K09940, KAKENHI-PROJECT-21K09756
  • [Journal Article] The first Japanese family of <i>CDH3</i> ‐related hypotrichosis with juvenile macular dystrophy2021

    • Author(s)
      Hayashi Takaaki、Katagiri Satoshi、Kubota Daiki、Mizobuchi Kei、Ishiuji Yozo、Asahina Akihiko、Kameya Shuhei、Nakano Tadashi
    • Journal Title

      Molecular Genetics &amp; Genomic Medicine

      Volume: 9 Issue: 6

    • DOI

      10.1002/mgg3.1688

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.2021

    • Author(s)
      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.
    • Journal Title

      Ophthalmol Retina

      Volume: - Issue: 12 Pages: 1269-1279

    • DOI

      10.1016/j.oret.2021.02.009

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-18K09444, KAKENHI-PROJECT-19K09929, KAKENHI-PROJECT-19K09991, KAKENHI-PROJECT-21K09716, KAKENHI-PROJECT-21K09756
  • [Journal Article] Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization2021

    • Author(s)
      Miyagi Mai、Takeuchi Jun、Koyanagi Yoshito、Mizobuchi Kei、Hayashi Takaaki、Ito Yasuki、Terasaki Hiroko、Nishiguchi Koji M.、Ueno Shinji
    • Journal Title

      Graefe's Archive for Clinical and Experimental Ophthalmology

      Volume: 260 Issue: 4 Pages: 1125-1137

    • DOI

      10.1007/s00417-021-05447-y

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-21K09756
  • [Journal Article] Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN2021

    • Author(s)
      Mizobuchi Kei、Hayashi Takaaki、Oishi Noriko、Kubota Daiki、Kameya Shuhei、Higasa Koichiro、Futami Takuma、Kondo Hiroyuki、Hosono Katsuhiro、Kurata Kentaro、Hotta Yoshihiro、Yoshitake Kazutoshi、Iwata Takeshi、Matsuura Tomokazu、Nakano Tadashi
    • Journal Title

      Journal of Clinical Medicine

      Volume: 10 Issue: 11 Pages: 2265-2265

    • DOI

      10.3390/jcm10112265

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-21K09756, KAKENHI-PROJECT-23K21722
  • [Journal Article] New variants and in silico analyses in GRK1 associated Oguchi disease2021

    • Author(s)
      Poulter James A.、Gravett Molly S. C.、Taylor Rachel L.、Fujinami Kaoru、(Hayashi Takaaki) et al、UK Inherited Retinal Disease Consortium, Genomics England Research Consortium
    • Journal Title

      Human Mutation

      Volume: 42 Issue: 2 Pages: 164-176

    • DOI

      10.1002/humu.24140

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report2021

    • Author(s)
      Hayashi Takaaki、Kondo Hiroyuki、Matsushita Itsuka、Mizobuchi Kei、Baba Akinori、Iida Kie、Kubo Hiroyuki、Nakano Tadashi
    • Journal Title

      Documenta Ophthalmologica

      Volume: 143 Issue: 3 Pages: 323-330

    • DOI

      10.1007/s10633-021-09842-y

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K09818, KAKENHI-PROJECT-21K09756
  • [Journal Article] Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan2021

    • Author(s)
      Oishi Akio、Fujinami Kaoru、Mawatari Go、Naoi Nobuhisa、Ikeda Yasuhiro、Ueno Shinji、Kuniyoshi Kazuki、Hayashi Takaaki、Kondo Hiroyuki、Mizota Atsushi、Shinoda Kei、Kusuhara Sentaro、Nakamura Makoto、Iwata Takeshi、Tsujikawa Akitaka、Tsunoda Kazushige
    • Journal Title

      Genes

      Volume: 12 Issue: 11 Pages: 1817-1817

    • DOI

      10.3390/genes12111817

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09929, KAKENHI-PROJECT-21K09756
  • [Journal Article] Complete congenital stationary night blindness associated with a novel <i>NYX</i> variant (p.Asn216Lys) in middle-aged and older adult patients2021

    • Author(s)
      Hayashi Takaaki、Murakami Yusuke、Mizobuchi Kei、Koyanagi Yoshito、Sonoda Koh-Hei、Nakano Tadashi
    • Journal Title

      Ophthalmic Genetics

      Volume: 42 Issue: 4 Pages: 412-419

    • DOI

      10.1080/13816810.2021.1904422

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness2021

    • Author(s)
      Hayashi Takaaki、Mizobuchi Kei、Kikuchi Shinsuke、Nakano Tadashi
    • Journal Title

      Documenta Ophthalmologica

      Volume: 142 Issue: 2 Pages: 265-273

    • DOI

      10.1007/s10633-020-09798-5

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] 優性遺伝性視神経萎縮 「覚えておきたい神経眼科疾患」2021

    • Author(s)
      林 孝彰
    • Journal Title

      眼科

      Volume: 63 Pages: 1287-1295

    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Journal Article] Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.2020

    • 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 Issue: 1 Pages: 1-10

    • DOI

      10.1038/s41598-020-62119-3

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11430, KAKENHI-PROJECT-18K09399, KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-18H02954, KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K11478, KAKENHI-PROJECT-17K19721, KAKENHI-PROJECT-19K09940, KAKENHI-PROJECT-18K16943, KAKENHI-PROJECT-18K09424, KAKENHI-PROJECT-17H06276
  • [Journal Article] Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN12020

    • Author(s)
      Hayashi Takaaki、Hosono Katsuhiro、Kubo Akiko、Kurata Kentaro、Katagiri Satoshi、Mizobuchi Kei、Kurai Minehiro、Mamiya Norihito、Kondo Mineo、Tachibana Toshiaki、Saitsu Hirotomo、Ogata Tsutomu、Nakano Tadashi、Hotta Yoshihiro
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 印刷中 Issue: 6 Pages: 1500-1505

    • DOI

      10.1002/ajmg.a.61575

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-20H03641
  • [Journal Article] Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy2020

    • Author(s)
      Kuniyoshi Kazuki、Hayashi Takaaki、Kameya Shuhei、Katagiri Satoshi、Mizobuchi Kei、Tachibana Toshiaki、Kubota Daiki、Sakuramoto Hiroyuki、Tsunoda Kazushige、Fujinami Kaoru、Yoshitake Kazutoshi、Iwata Takeshi、Nakano Tadashi、Kusaka Shunji
    • Journal Title

      International Journal of Molecular Sciences

      Volume: 21 Issue: 4 Pages: 1331-1331

    • DOI

      10.3390/ijms21041331

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-19K09940, KAKENHI-PROJECT-17H06276
  • [Journal Article] Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy2020

    • Author(s)
      Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y
    • Journal Title

      Documenta Ophthalmologica

      Volume: 140 Issue: 2 Pages: 1140-157

    • DOI

      10.1007/s10633-019-09727-1

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K19721
  • [Journal Article] Ultra-wide field fundus autofluorescence imaging of eyes with Stickler syndrome2020

    • Author(s)
      Fujimoto Kazushi、Nagata Tatsuo、Imagawa Mamika、Oku Kazuma、Matsushita Itsuka、Hayashi Takaaki、Kimoto Kennichi、Kuniyoshi Kazuki、Ohji Masahito、Kusaka Shunji、Kondo Hiroyuki
    • Journal Title

      Retina

      Volume: in press

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11441
  • [Journal Article] ULTRA-WIDE FIELD FUNDUS AUTOFLUORESCENCE IMAGING OF EYES WITH STICKLER SYNDROME2020

    • Author(s)
      Fujimoto Kazushi、Nagata Tatsuo、Matsushita Itsuka、Oku Kazuma、Imagawa Mamika、Kuniyoshi Kazuki、Hayashi Takaaki、Kimoto Kenichi、Ohji Masahito、Kusaka Shunji、Kondo Hiroyuki
    • Journal Title

      Retina

      Volume: 41 Issue: 3 Pages: 638-645

    • DOI

      10.1097/iae.0000000000002879

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K09818, KAKENHI-PROJECT-21K09756
  • [Journal Article] Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy2020

    • Author(s)
      Hayashi Takaaki、Katagiri Satoshi、Mizobuchi Kei、Yoshitake Kazutoshi、Kameya Shuhei、Matsuura Tomokazu、Iwata Takeshi、Nakano Tadashi
    • Journal Title

      Ophthalmic Genetics

      Volume: 41 Issue: 1 Pages: 93-95

    • DOI

      10.1080/13816810.2020.1723119

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-19K09940, KAKENHI-PROJECT-17H06276
  • [Journal Article] RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.2020

    • Author(s)
      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.
    • Journal Title

      Investigative Ophthalmology & Visual Science

      Volume: 61 Issue: 3 Pages: 53-53

    • DOI

      10.1167/iovs.61.3.53

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-18H02954, KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17H06276
  • [Journal Article] Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort2019

    • Author(s)
      Maeda-Kitahira A, Nakamura N, Hayashi T, Katagiri S, Shimizu S, Ohde H, Matsunaga T, Kaga K, Nakano T, Kameya S, Matsuura T, Fujinami K, Iwata T, Tsunoda K
    • Journal Title

      Molecular Vision

      Volume: 25 Pages: 559-573

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Journal Article] Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis2019

    • Author(s)
      Kondo Hiroyuki、Oku Kazuma、Katagiri Satoshi、Hayashi Takaaki、Nakano Tadashi、et al.
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 3-3

    • DOI

      10.1038/s41439-018-0034-6

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K19721, KAKENHI-PROJECT-18H02954, KAKENHI-PROJECT-17H06276, KAKENHI-PROJECT-16H06269, KAKENHI-PROJECT-16KK0193, KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-17K11441
  • [Journal Article] Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.2019

    • Author(s)
      Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T.
    • Journal Title

      Doc Ophthalmol.

      Volume: 138(3) Issue: 3 Pages: 229-239

    • DOI

      10.1007/s10633-019-09679-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06276, KAKENHI-PROJECT-17K11434
  • [Journal Article] Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.2019

    • Author(s)
      Mawatari G, Fujinami K, Liu X, Yang L, Yokokawa YF, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group.
    • Journal Title

      Human Genome Varriation

      Volume: 6 Issue: 1 Pages: 34-34

    • DOI

      10.1038/s41439-019-0065-7

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-18K16943, KAKENHI-PROJECT-17K11434
  • [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、Liu Xiao、Arno Gavin、Pontikos Nikolas、
    • Journal Title

      Investigative Opthalmology & Visual Science

      Volume: 60 Issue: 10 Pages: 3432-3432

    • DOI

      10.1167/iovs.19-26650

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K09940, KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-18K16943, KAKENHI-PROJECT-17K11434
  • [Journal Article] Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)2019

    • Author(s)
      Mizobuchi Kei、Katagiri Satoshi、Hayashi Takaaki、Yoshitake Kazutoshi、Fujinami Kaoru、Kuniyoshi Kazuki、Mishima Reimi、Tsunoda Kazushige、Iwata Takeshi、Nakano Tadashi
    • Journal Title

      American Journal of Ophthalmology Case Reports

      Volume: 13 Pages: 110-115

    • DOI

      10.1016/j.ajoc.2018.12.019

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17H06276, KAKENHI-PROJECT-16H06269, KAKENHI-PROJECT-16KK0193
  • [Journal Article] High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia.2019

    • Author(s)
      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.
    • Journal Title

      Ophthalmic Surg Lasers Imaging Retina.

      Volume: 50(2) Issue: 2 Pages: 76-85

    • DOI

      10.3928/23258160-20190129-03

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17H06276, KAKENHI-PROJECT-16H06269, KAKENHI-PROJECT-16KK0193, KAKENHI-PROJECT-17K11434
  • [Journal Article] Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.2019

    • Author(s)
      Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T.
    • Journal Title

      Sci Rep.

      Volume: 9 Issue: 1 Pages: 1-9

    • DOI

      10.1038/s41598-019-52660-1

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11430, KAKENHI-PROJECT-19K09989, KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K19721
  • [Journal Article] Electroretinograms of eyes with Stickler syndrome2019

    • Author(s)
      Kondo Hiroyuki、Fujimoto Kazushi、Imagawa Mamika、Oku Kazuma、Matsushita Itsuka、Hayashi Takaaki、Nagata Tatsuo
    • Journal Title

      Doc Ophthalmol

      Volume: 2019/11/30Epub Issue: 3 Pages: 233-243

    • DOI

      10.1007/s10633-019-09739-x

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11441, KAKENHI-PROJECT-20K09818
  • [Journal Article] X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers2019

    • Author(s)
      Kurata Kentaro、Hosono Katsuhiro、Hayashi Takaaki、Mizobuchi Kei、Katagiri Satoshi、Miyamichi Daisuke、Nishina Sachiko、Sato Miho、Azuma Noriyuki、Nakano Tadashi、Hotta Yoshihiro
    • Journal Title

      International Journal of Molecular Sciences

      Volume: 20 Issue: 6 Pages: 1518-1518

    • DOI

      10.3390/ijms20061518

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-19K10004, KAKENHI-PROJECT-15H04998, KAKENHI-PROJECT-19H03810, KAKENHI-PROJECT-17K11434
  • [Journal Article] Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.2018

    • Author(s)
      Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, Ueno S, Kondo M, Ueyama H, Ogita H, Shichida Y, Inagaki H, Kurahashi H, Kondo H, Ohji M, Hotta Y, Nakano T.
    • Journal Title

      Sci Rep

      Volume: 8 Issue: 1 Pages: 11507-11507

    • DOI

      10.1038/s41598-018-29891-9

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K08627, KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K19721, KAKENHI-PROJECT-16H02515, KAKENHI-PROJECT-18H02954, KAKENHI-PROJECT-17F17418, KAKENHI-PROJECT-16K07437, KAKENHI-PROJECT-16K11284
  • [Journal Article] Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly)2018

    • Author(s)
      Katagiri Satoshi、Hayashi Takaaki、Mizobuchi Kei、Yoshitake Kazutoshi、Iwata Takeshi、Nakano Tadashi
    • Journal Title

      Ophthalmic Genetics

      Volume: 39 Issue: 3 Pages: 357-365

    • DOI

      10.1080/13816810.2018.1459737

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17H06276
  • [Journal Article] Neuronal intranuclear hyaline inclusion disease presenting with childhood-onset night blindness associated with progressive retinal dystrophy2018

    • Author(s)
      Omoto Shusaku、Hayashi Takaaki、Matsuno Hiromasa、Higa Hitomi、Kameya Shuhei、Sengoku Renpei、Takahashi-Fujigasaki Junko、Murayama Shigeo、Iguchi Yasuyuki
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 388 Pages: 84-86

    • DOI

      10.1016/j.jns.2018.03.010

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-16K09736
  • [Journal Article] Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants2018

    • Author(s)
      Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y.
    • Journal Title

      Molecular Vision

      Volume: 24 Pages: 286-296

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Journal Article] Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing2018

    • Author(s)
      Hosono Katsuhiro、Nishina Sachiko、Yokoi Tadashi、Katagiri Satoshi、Saitsu Hirotomo、Kurata Kentaro、Miyamichi Daisuke、Hikoya Akiko、Mizobuchi Kei、Nakano Tadashi、Minoshima Shinsei、Fukami Maki、Kondo Hiroyuki、Sato Miho、Hayashi Takaaki、Azuma Noriyuki、Hotta Yoshihiro
    • Journal Title

      Scientific Reports

      Volume: 8 Issue: 1 Pages: 8279-8279

    • DOI

      10.1038/s41598-018-26524-z

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K11441, KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K11479, KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-16K11309
  • [Journal Article] 研究倫理と遺伝カウンセリング、社会とのかかわり「網膜変性診療の未来予想図」2018

    • Author(s)
      林孝彰
    • Journal Title

      あたらしい眼科

      Volume: 35 Pages: 437-445

    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Journal Article] Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-L?ken syndrome2018

    • Author(s)
      Katagiri Satoshi、Hayashi Takaaki、Yoshitake Kazutoshi、Murai Noriyuki、Matsui Zenichi、Kubo Hiroyuki、Satoh Hiroyuki、Matsufuji Senya、Takamura Tsuyoshi、Yokoo Takashi、Omori Yoshihiro、Furukawa Takahisa、Iwata Takeshi、Nakano Tadashi
    • Journal Title

      Scientific Reports

      Volume: 8 Issue: 1 Pages: 16733-16733

    • DOI

      10.1038/s41598-018-35152-6

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-16K08583
  • [Journal Article] Foveal Hypoplasia in Patients with Stickler Syndrome2017

    • Author(s)
      Matsushita I, Nagata T, Hayashi T, Kimoto K, Kubota T, Ohji M, Kusaka S, Kondo H.
    • Journal Title

      Ophthalmology

      Volume: in press Issue: 6 Pages: 896-902

    • DOI

      10.1016/j.ophtha.2017.01.046

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25462738, KAKENHI-PROJECT-26870788, KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K11441
  • [Journal Article] Closure of a full-thickness macular hole without vitrectomy in choroideremia2017

    • Author(s)
      Ishikawa K, Gekka T, Hayashi T, Kikuchi S, Kameya S, Tsuneoka H
    • Journal Title

      Clin Exp Optom

      Volume: 100 Issue: 3 Pages: 294-295

    • DOI

      10.1111/cxo.12467

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25462738, KAKENHI-PROJECT-17K11434
  • [Journal Article] Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation.2017

    • Author(s)
      Katagiri S, Tanaka S, Yokoi T, Hayashi T, Matsuzaka E, Ueda K, Yoshida-Uemura T, Arakawa A, Nishina S, Kadonosono K, Azuma N.
    • Journal Title

      American Journal of Ophthalmology Case Reports

      Volume: 5 Pages: 76-80

    • DOI

      10.1016/j.ajoc.2016.12.009

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15H02566, KAKENHI-PROJECT-15K15640, KAKENHI-PROJECT-16K11309, KAKENHI-PROJECT-17K11434
  • [Journal Article] In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.2017

    • Author(s)
      Ueno S, Nakanishi A, Kominami T, Ito Y, Hayashi T, Yoshitake K, Kawamura Y, Tsunoda K, Iwata T, Terasaki H.
    • Journal Title

      Jpn J Ophthalmol

      Volume: 61 Issue: 1 Pages: 92-98

    • DOI

      10.1007/s10384-016-0484-7

    • NAID

      210000179265

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293377, KAKENHI-PROJECT-25462738, KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-15H04994
  • [Journal Article] A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype2017

    • Author(s)
      Katagiri Satoshi、Hayashi Takaaki、Gekka Tamaki、Tsuneoka Hiroshi
    • Journal Title

      Ophthalmic Genetics

      Volume: 38 Issue: 3 Pages: 286-287

    • DOI

      10.1080/13816810.2016.1193880

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Journal Article] ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance2017

    • Author(s)
      Katagiri Satoshi、Negishi Yuya、Mizobuchi Kei、Urashima Mitsuyoshi、Nakano Tadashi、Hayashi Takaaki
    • Journal Title

      Journal of Ophthalmology

      Volume: 2017 Pages: 1-7

    • DOI

      10.1155/2017/1079687

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17H06276, KAKENHI-PROJECT-26462674
  • [Journal Article] Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia2017

    • Author(s)
      Ueno S, Nakanishi A, Sayo A, Kominami T, Ito Y, Hayashi T, Tsunoda K, Iwata T, Terasaki H
    • Journal Title

      Doc Ophthalmol

      Volume: 134 Issue: 2 Pages: 141-147

    • DOI

      10.1007/s10633-017-9577-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-25462738, KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-15H04994
  • [Journal Article] Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females2017

    • Author(s)
      Fiorentino Alessia、Fujinami Kaoru、(Hayashi Takaaki)、Iwata Takeshi、Parker Matthew、Webster Andrew R.、Michaelides Michel、Hardcastle Alison J.、for the 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
    • Journal Title

      Human Mutation

      Volume: 39 Issue: 1 Pages: 80-91

    • DOI

      10.1002/humu.23349

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17H06276, KAKENHI-PROJECT-16H06269
  • [Journal Article] Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants2017

    • Author(s)
      Kominami Azusa、Ueno Shinji、Kominami Taro、Nakanishi Ayami、Ito Yasuki、Fujinami Kaoru、Tsunoda Kazushige、Hayashi Takaaki、Kikuchi Sachiko、Kameya Shuhei、Iwata Takeshi、Terasaki Hiroko
    • Journal Title

      Ophthalmic Genetics

      Volume: 39 Issue: 2 Pages: 255-262

    • DOI

      10.1080/13816810.2017.1408846

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11265, KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-15H04994, KAKENHI-PROJECT-17H06276, KAKENHI-PROJECT-16H06269
  • [Journal Article] Epidemiology of retinal detachment in patients with Stickler syndrome associated with COL2A1 gene mutations2016

    • Author(s)
      Kondo H, Matsushita I, Nagata T, Hayashi T, Kakinoki M, Uchino E, Kondo M, Ohji M, Kusaka S
    • Journal Title

      Hum Genome Var

      Volume: 3 Issue: 1 Pages: 16018-16018

    • DOI

      10.1038/hgv.2016.18

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-25462738, KAKENHI-PROJECT-26462654, KAKENHI-PROJECT-15K10911
  • [Journal Article] Spontaneous resolution of large macular retinoschisis in enhanced S-cone syndrome2016

    • Author(s)
      Hayashi T, Gekka T, Tsuneoka H
    • Journal Title

      Ophthalmic Surg Lasers Imaging Retina

      Volume: 47 Issue: 2 Pages: 187-190

    • DOI

      10.3928/23258160-20160126-15

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Journal Article] Novel RP1L1 variants and genotype-photoreceptor microstructural phenotype associations in cohort of Japanese patients with occult macular dystrophy.2016

    • Author(s)
      Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K.
    • Journal Title

      Invest Ophthalmol Vis Sci.

      Volume: 57 Issue: 11 Pages: 4837-4846

    • DOI

      10.1167/iovs.16-19670

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04994, KAKENHI-PROJECT-16H06269, KAKENHI-PROJECT-26293377, KAKENHI-PROJECT-25462738, KAKENHI-PROJECT-26462683, KAKENHI-PROJECT-15K10903
  • [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 Issue: 3 Pages: 354-356

    • DOI

      10.3109/13816810.2015.1066829

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25462738
  • [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

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-26462674
  • [Journal Article] Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort.2016

    • Author(s)
      Nakanishi A, Ueno S, Hayashi T, Katagiri S, Kominami T, Ito Y, Gekka T, Masuda Y, Tsuneoka H, Shinoda K, Hirakata A, Inoue M, Fujinami K, Tsunoda K, Iwata T, Terasaki H.
    • Journal Title

      Am J Ophthalmol.

      Volume: 168 Pages: 86-94

    • DOI

      10.1016/j.ajo.2016.04.023

    • NAID

      120005868242

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15H04994, KAKENHI-PROJECT-16H06269, KAKENHI-PROJECT-26293377, KAKENHI-PROJECT-25462738
  • [Journal Article] RPE65 mutations in two Japanese families with Leber congenital amaurosis.2016

    • Author(s)
      Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T
    • Journal Title

      Ophthalmic Genetics

      Volume: 37 Issue: 2 Pages: 161-169

    • DOI

      10.3109/13816810.2014.991931

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26293377, KAKENHI-PROJECT-25462738
  • [Journal Article] High resolution adaptive optics retinal image analysis at early-stage central areolar choroidal dystrophy with PRPH2 mutation2016

    • Author(s)
      Gocho K, Akeo K, Itoh N, Kameya S, Hayashi T, Katagiri S, Gekka T, Ohkuma Y, Tsuneoka H, Takahashi H.
    • Journal Title

      Ophthalmic Surg Lasers Imaging Retina

      Volume: 47 Issue: 12 Pages: 1115-1126

    • DOI

      10.3928/23258160-20161130-05

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Journal Article] New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.2016

    • Author(s)
      Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y.
    • Journal Title

      Jpn J Ophthalmol

      Volume: 60 Issue: 6 Pages: 476-485

    • DOI

      10.1007/s10384-016-0470-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26293377, KAKENHI-PROJECT-25462738
  • [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

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26462674, KAKENHI-PROJECT-15K15641, KAKENHI-PROJECT-26293377
  • [Journal Article] Mutation analysis of BEST1 in Japanese patients with Best’s vitelliform macular dystrophy2015

    • Author(s)
      Katagiri S,Hayashi T,Ohkuma Y,Sekiryu T,Takeuchi T,Gekka T,et al.
    • Journal Title

      Br J Ophthalmol

      Volume: 99 Issue: 11 Pages: 1577-1582

    • DOI

      10.1136/bjophthalmol-2015-306830

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25462738, KAKENHI-PROJECT-26462683, KAKENHI-PROJECT-25462724, KAKENHI-PROJECT-15K15641, KAKENHI-PROJECT-26293377
  • [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

    • Data Source
      KAKENHI-PROJECT-26462674
  • [Journal Article] Multimodal imaging of a case of peripheral cone dystrophy2015

    • Author(s)
      Ito N,Kameya S,Gocho K,Hayashi T,Kikuchi S,Katagiri S,et al.
    • Journal Title

      Doc Ophthalmol

      Volume: 130 Issue: 3 Pages: 241-251

    • DOI

      10.1007/s10633-015-9490-1

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Journal Article] Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia2015

    • Author(s)
      Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T
    • Journal Title

      Ophthalmic Genet

      Volume: in press

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Journal Article] RPE65 mutations in two Japanese families with Leber congenital amaurosis2015

    • Author(s)
      Katagiri S, Hayashi T, Kondo M, Tsukitome H, Yoshitake K, Akahori M, Ikeo K, Tsuneoka H, Iwata T
    • Journal Title

      Ophthalmic Genet

      Volume: in press

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Journal Article] OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina2014

    • Author(s)
      Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H
    • Journal Title

      Doc Ophthalmol

      Volume: 128 Issue: 2 Pages: 137-148

    • DOI

      10.1007/s10633-014-9426-1

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Journal Article] RHO mutations (p.W126L and p.A346P) in two Japanese families with autosomal dominant retinitis pigmentosa2014

    • Author(s)
      Katagiri S, Hayashi T, Akahori M, Itabashi T, Nishio J, Yoshitake K, Furuno M, Ikeo K, Okada T, Tsuneoka H, Iwata T
    • Journal Title

      J Ophthalmol

      Volume: 2014 Pages: 210947-210947

    • DOI

      10.1155/2014/210947

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25462738, KAKENHI-PROJECT-26293377, KAKENHI-PROJECT-26670762
  • [Journal Article] Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.2014

    • Author(s)
      Katagiri S, Akahori M, Hayashi T, Yoshitake K, Gekka T, Ikeo K, Tsuneoka H, Iwata T.
    • Journal Title

      Doc Ophthalmol.

      Volume: 128(3) Issue: 3 Pages: 211-217

    • DOI

      10.1007/s10633-014-9435-0

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23370098, KAKENHI-PROJECT-25462738, KAKENHI-PROJECT-25462744
  • [Journal Article] KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy2014

    • Author(s)
      Ogasawara M, Matsumoto Y, Hayashi T, Ohno K, Yamada H, Kawakita T, et al.
    • Journal Title

      American Journal of Ophthalmology

      Volume: 157 Issue: 1 Pages: 93-102

    • DOI

      10.1016/j.ajo.2013.08.008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Journal Article] Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.2014

    • Author(s)
      Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T.
    • Journal Title

      Ophthalmic Genetics

      Volume: 12 Pages: 1-8

    • DOI

      10.3109/13816810.2014.949380

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25462744, KAKENHI-PROJECT-25462738
  • [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

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-25462744, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26293377, KAKENHI-PROJECT-26462674, KAKENHI-PROJECT-26670762
  • [Journal Article] Whole-exome sequencing identifies a novel ALMS1 mutation (Q2051X) in two Japanese bothers with Alstrom Syndrome2013

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

      Molecular Vision

      Volume: 19 Pages: 2393-2406

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Journal Article] A novel haplotype with the R345W mutation in the LTEMPI gene associated with autosomal dominant drusen in a Japanese family.2010

    • Author(s)
      Takeuchi T., Hayashi T., Bedell M., et al.
    • Journal Title

      Invest Ophthalmol Vis Sci 51

      Pages: 1643-1650

    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 増殖糖尿病網膜症および錐体ジストロフィを合併しRDH5遺伝子変異を認めた白点状眼底底2010

    • Author(s)
      林孝彰, 他
    • Journal Title

      臨床眼科 64

      Pages: 495-502

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 増殖糖尿病網膜症および錐体ジストロフィを合併しRDH5遺伝子変異を認めた白点状眼底底.2010

    • Author(s)
      林孝彰, 月花環, 根岸裕也, ほか
    • Journal Title

      臨床眼科 64

      Pages: 495-502

    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 先天赤緑色覚異常と錐体ジストロフィに伴う後天色覚異常の合併を遺伝子解析により診断した1例2009

    • Author(s)
      葛西梢, 林孝彰, 竹内智一, ほか
    • Journal Title

      臨床眼科 63

      Pages: 1809-1816

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 先天赤緑色覚異常と錐体ジストロフィに伴う後天色覚異常の合併を遺伝子解析により診断した1例2009

    • Author(s)
      葛西梢, 林孝彰, 他
    • Journal Title

      臨床眼科 63

      Pages: 1809-1816

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 63歳時に輪状暗点を契機に診断されSAG遺伝子変異(1147delA)が認められた小口病2009

    • Author(s)
      林孝彰, 他
    • Journal Title

      臨床眼科 63

      Pages: 315-321

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 63歳時に輪状暗点を契機に診断されSAG遺伝子変異(1147delA)が認められた小口病2009

    • Author(s)
      林孝彰, 竹内智一, 月花環, ほか
    • Journal Title

      臨床眼科 63

      Pages: 315-321

    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population2009

    • Author(s)
      Goto A (Hayashi T), et al
    • Journal Title

      J Ocul Biol Dis Infor 2

      Pages: 164-175

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.2009

    • Author(s)
      Goto A, Akahori M, Okamoto H, Minami M, Terauchi N, Haruhata Y, Obazawa M, Noda T, Honda M, Mizota A, Tanaka M, Hayashi T, et al
    • Journal Title

      J Ocul Biol Dis Infor 2

      Pages: 164-175

    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 2型3色覚と診断された女性先天赤緑色覚異常者に対する遺伝子診断の試み2008

    • Author(s)
      林孝彰, 竹内智一, 常岡寛
    • Journal Title

      臨床眼科 62

      Pages: 1763-1767

    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 男性先天赤緑色覚異常者における遺伝子診断の有用性2008

    • Author(s)
      林孝彰, 竹内智一, 久保朗子, ほか
    • Journal Title

      臨床眼科 62

      Pages: 1589-1594

    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 男性先天赤緑色覚異常者における遺伝子診断の有用性.2008

    • Author(s)
      林孝彰, 他
    • Journal Title

      臨床眼科 62

      Pages: 1589-1594

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 2型3色覚と診断された女性先天赤緑色覚異常者に対する遺伝子診断の試み.2008

    • Author(s)
      林孝彰, 他
    • Journal Title

      臨床眼科 62

      Pages: 1763-1767

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] A novel homozygous GM mutation (P391H) in two siblings with Oguchi disease with markedly reduced cone responses.2007

    • Author(s)
      Hayashi T, Gekka T, Takeuchi T, et al
    • Journal Title

      Ophthalmology 114

      Pages: 134-141

    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] Dominant optic atrophy in a Japanese family with OPAI frameshift mutation (V942fsX966).2007

    • Author(s)
      Hayashi T, Takeuchi T, Gekka T, et al
    • Journal Title

      Eur J Ophthalmol 17

      Pages: 253-258

    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] A novel homozygous GRKI mutation(P391H) in two siblings with Oguchi disease with markedly reduced cone responses.2007

    • Author(s)
      Hayashi T., et. al.
    • Journal Title

      Ophthalmology 114

      Pages: 134-141

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] Dominant optic atrophy in a Japanese family with OPAI frameshift mutation(V942fsX966).2007

    • Author(s)
      Hayashi T., et. al.
    • Journal Title

      Eur J Ophthalmol 17

      Pages: 253-258

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G>A) associated with intron retention2005

    • Author(s)
      Hayashi T. et al.
    • Journal Title

      Ophthalmic Research 37

      Pages: 214-224

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy2005

    • Author(s)
      Gekka T., Hayashi T.et al.
    • Journal Title

      Ophthalmic Research 37

      Pages: 262-269

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity2005

    • Author(s)
      Hayashi T. et al.
    • Journal Title

      Ophthalmology 112

      Pages: 2115-2122

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] Expression of Rinx/Vsx1 during postnatal eye development in cone-bipolar, differentiating ganglion, and lens fiber cells2005

    • Author(s)
      Hayashi T. et al.
    • Journal Title

      Japanese Journal of Ophthalmology 49

      Pages: 93-105

    • NAID

      10016484688

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] Optical coherence tomography in enhanced S-cone syndrome : large macular retinoschisis with disorganized retinal lamination2005

    • Author(s)
      Hayashi T. et al.
    • Journal Title

      European Journal of Ophthalmology 15

      Pages: 643-646

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] 家系調査から可能であった第1色弱女児の赤・緑視物質遺伝子型の同定2004

    • Author(s)
      林 孝彰他
    • Journal Title

      日本眼科学会雑誌 108

      Pages: 489-495

    • NAID

      10013516155

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] Clinical heterogeneity between tow Japanese siblings with congenital achromatopsia2004

    • Author(s)
      Hayashi T. et al.
    • Journal Title

      Visual Neuroscience 21

      Pages: 413-420

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] Autosomal dominat familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)2004

    • Author(s)
      Omoto S., Hayashi T.et al.
    • Journal Title

      Opthalmic Genetics 25

      Pages: 81-90

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene2004

    • Author(s)
      Hayashi T. et al.
    • Journal Title

      American Journal of Ophthalmology 138

      Pages: 788-798

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X)2004

    • Author(s)
      Nakamura Y., Hayashi T.et al.
    • Journal Title

      Acta Opthalmologica Scandinavica 82

      Pages: 616-622

    • Data Source
      KAKENHI-PROJECT-16791073
  • [Journal Article] A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 inenhanced S-cone syndrome

    • Author(s)
      Rocha Sousa A, Hayashi T, et al.
    • Journal Title

      Graefes Arch Clin Exp Ophthalmol (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 63歳時に輪状暗点を契機に診断されSAG遺伝子変異(1147delA)が認められた小口病.

    • Author(s)
      林孝彰, 他
    • Journal Title

      臨床眼科 (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 2型3色覚と診断された女性先天赤緑色覚異常者に対する遺伝子診断の試み.

    • Author(s)
      林孝 彰, 他
    • Journal Title

      臨床眼科 (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Journal Article] 男性先天赤緑色覚異常者における遺伝子診断の有用性.

    • Author(s)
      林孝 彰, 他
    • Journal Title

      臨床眼科 (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 眼底所見が正常な錐体ジストロフィ2023

    • Author(s)
      國吉一樹,角田和繁,林 孝彰,永江由季,藤波 芳,須賀晶子,岩田 岳,日下俊次
    • Organizer
      第127回 日本眼科学会 総会
    • Data Source
      KAKENHI-PROJECT-22K09825
  • [Presentation] 本邦における杆体一色覚の遺伝的病因と臨床的特徴2023

    • Author(s)
      井岡大河,林孝彰,慈溝渕圭,角田和繁,國吉一樹,近藤寛之,太田淳也,小南太郎,西口康二,上野真治
    • Organizer
      第70回 日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-22K09825
  • [Presentation] Electroretinograms of eyes with Stickler syndrome2023

    • Author(s)
      Nishimura S, Kondo H, Fujimoto K, Imanaga M, Oku K, Matsushita I, Nagata T, Hayashi T, Nagata T
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (Kyoto, Japan)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] An elderly case of butterfly-shaped pattern dystrophy2023

    • Author(s)
      Shikura R, Hayashi T, Mizobuchi K, Nakano T
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (Kyoto, Japan)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] Longitudinal clinical course of two siblings with KCNV2-associated retinopathy2023

    • Author(s)
      Tomoko Sato, Kazuki Kuniyoshi, Takaaki Hayashi, Hirokazu Nishiwaki, Yoshikazu Hatsukawa, Kei Mizobuchi, Ryota Tomemori, Takao Endo, Tadashi Nakano, and Shunji Kusaka
    • Organizer
      Annual Meeting of International Society for Clinical Electrophysiology of Vision (ISCEV)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K09825
  • [Presentation] Longitudinal clinical course of two siblings with KCNV2-associated retinopathy2023

    • Author(s)
      Sato T, Kuniyoshi K, Hayashi T, Nishiwaki H, Hatsukawa Y, Mizobuchi K, Tomemori R, Endo T, Nakano T, Kusaka S
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (Kyoto, Japan)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] 日本人におけるABCA4関連網膜ジストロフィの臨床像および遺伝的特徴に関する全国コホート研究2023

    • Author(s)
      溝渕 圭,林 孝彰,田中公二,國吉一樹,村上祐介,中村奈津子,角田和繁,溝田 淳,前田亜希子,鳥居薫子,小南太郎,上野真治,西口康二,池田康博,近藤峰生,堀田喜裕,中野 匡
    • Organizer
      第62回 日本網膜硝子体学会 総会
    • Data Source
      KAKENHI-PROJECT-22K09825
  • [Presentation] RDH5関連白点状眼底患者における1年間のドナリエラ治療効果の検討2023

    • Author(s)
      溝渕圭、林孝彰、上野真治、近藤峰生、寺崎浩子、中野匡.
    • Organizer
      第127回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] Percentage of testing performed and sensitivity of electrophysiological tests in the diagnosis of MEWDS: A multicenter study in Japan2023

    • Author(s)
      Kondo M, Saito W, Matsui Y, Tanaka T, Ishida S, Kuniyoshi K, Ueno S, Hayashi T, Nakano T, Hayakawa T, Tsunoda K, Keino H, Okada AA, Nakamura K, Akiyama H
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (Kyoto, Japan)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] Electroretinographic abnormalities in X-linked Alport syndrome with a novel COL4A5 variant2023

    • Author(s)
      Mizobuchi K, Hayashi T, Ohira R, Nakano T
    • Organizer
      60th Symposium of the International Society for Clinical Electrophysiology of Vision (Kyoto, Japan)
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] Stargardt病(STGD1)に対する全エクソーム解析のABCA4遺伝子変異検出率の検討2023

    • Author(s)
      林孝彰、溝渕圭、亀谷修平、國吉一樹、堀田喜裕、岩田岳、中野匡
    • Organizer
      第127回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] 蝶形パターンジストロフィの高齢男性の1例2022

    • Author(s)
      四蔵梨奈、林孝彰、溝渕圭、田口諒、蕪城俊克、中野匡
    • Organizer
      第61回日本網膜硝子体学会総会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] Complex genetics of FEVR2022

    • Author(s)
      Kondo H, Matsushita I, Kawamura T, Kusaka S, Hayashi T, Shirasawa M, Nishina S, Kaneko Y, Kawasaki R, Sakamoto T, Uchio E
    • Organizer
      FUJIRETINA
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] 我が国の家族性滲出性硝子体網膜症250家系の遺伝子解析2022

    • Author(s)
      近藤寛之、松下五佳、川村朋子、内尾英一、日下俊次、林孝彰、白澤誠、仁科幸子、金子優、川崎良、坂本泰二
    • Organizer
      第126回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] 日本人家族性ドルーゼンの4家系におけるEFEMP1変異のハプロタイプ解析2022

    • Author(s)
      林孝彰、溝渕圭、榎本暢子、細野克博、堀田喜裕、松浦知和、中野匡
    • Organizer
      第126回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] 全エクソーム解析で診断された常染色体潜性ベストロフィノパチーの女児2022

    • Author(s)
      佐々木貴優、溝渕圭、村山耕一郎、篠田啓、林孝彰
    • Organizer
      第76回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] CTNNB1遺伝子変異を有する症候性家族性滲出性硝子体網膜症の臨床像2022

    • Author(s)
      成瀬翔、岡本美里、林孝彰、細野克博、堀田喜裕、岡島道子、渡邊淳、東範行、日下俊次、近藤寛之
    • Organizer
      第126回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] NRL遺伝子変異による常染色体優性網膜色素変性の最初の日本人家系2022

    • Author(s)
      溝渕圭、林孝彰、中野匡
    • Organizer
      第126回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] .BBS12遺伝子変異によるBardet-Biedl症候群の1例2022

    • Author(s)
      諸橋環、清水翔一、中﨑公隆、林孝彰、森岡一朗
    • Organizer
      第57回日本小児腎臓病学会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] S錐体のコントラスト感度低下を認めた顕性遺伝性視神経萎縮の1例2022

    • Author(s)
      福田有紀、大平亮、五十嵐若菜、奥出祥代、溝渕圭、林孝彰、中野匡
    • Organizer
      第63回日本視能矯正学会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] 黄色斑眼底に類似したパターンジストロフィの1例2021

    • Author(s)
      齋藤友香、溝渕圭、林孝彰、郡司久人、中野匡
    • Organizer
      第75回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] SLC38A8遺伝子に1塩基挿入変異を認めた常染色体劣性黄斑低形成の1例2021

    • Author(s)
      林 孝彰
    • Organizer
      第46回日本小児眼科学会総会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] 日本人enhanced S-cone syndromeの臨床的および遺伝学的特徴2021

    • Author(s)
      林 孝彰
    • Organizer
      第125回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] インストラクションコース 網膜硝子体ジストロフィ診療カンファレンス2021

    • Author(s)
      近藤寛之、近藤峰生、林孝彰、高橋政代、堀田喜裕
    • Organizer
      第75回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] 日本における黄斑ジストロフィの患者発症数と総患者数の推定2021

    • Author(s)
      近藤峰生、上野真治、角田和繁、林孝彰、白澤誠、坂本泰二
    • Organizer
      第75回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-21K09756
  • [Presentation] 日本人X連鎖性網膜色素変性症の遺伝型と臨床像の検討2019

    • Author(s)
      2.倉田健太郎、細野克博、溝渕圭、片桐聡、宮道大督、仁科幸子、東範行、中野匡、林孝彰、堀田喜裕
    • Organizer
      第123回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] シンポジウム「網脈絡膜ジストロフィの最前線(JEGCスタディ総括Part 1」白点状眼底、常染色体優性視神経萎縮2019

    • Author(s)
      林孝彰
    • Organizer
      第67回日本臨床視覚電気生理学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] COL2A1遺伝子変異陽性のStickler症候群の網膜電位図所見2019

    • Author(s)
      冨士本一志、永田竜朗、松下五佳、林孝彰、久保田敏昭、大路正人、日下俊次、近藤寛之
    • Organizer
      第123回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11441
  • [Presentation] GNAT1及びABCA4遺伝子変異重複による若年発症錐体杆体ジストロフィが疑われた同胞例2019

    • Author(s)
      1.林孝彰、細野克博、片桐聡、溝渕圭、倉田健太郎、中野匡、堀田喜裕
    • Organizer
      第123回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] RDH5遺伝子変異を認めた白点状眼底の臨床像2019

    • Author(s)
      17.林孝彰、片桐聡、上野真治、國吉一樹、近藤峰生、角田和繁、近藤寛之、岩田岳、松浦知和、中野匡
    • Organizer
      第73回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] 全エクソーム解析により診断されたムコリピドーシスIV型の1例2019

    • Author(s)
      6.林孝彰、細野克博、久保朗子、倉田健太郎、片桐聡、近藤峰生、中野匡、堀田喜裕
    • Organizer
      第75回日本弱視斜視学会総会・第44回日本小児眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] Flecked retinal dystrophy with severe retinal dysfunction and biallelic RPE65 variants2018

    • Author(s)
      林孝彰、細野克博、片桐聡、倉田健太郎、溝渕圭、月花環、吉武和敏、岩田岳、中野匡、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] GNAT1変異を認めたNougaret型優性遺伝性先天停在性夜盲の1家系2018

    • Author(s)
      林孝彰、細野克博、片桐聡、倉田健太郎、中野匡、堀田喜裕
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] シンポジウム「小児網膜変性疾患の病態と診断」診断に苦慮する小児期発症の網膜ジストロフィ2018

    • Author(s)
      林孝彰
    • Organizer
      第72回日本臨床眼科学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] サブスペシャリティサンデー「緑内障・視神経症」「視神経症・診断の決め手」遺伝性視神経疾患の遺伝子解析2018

    • Author(s)
      林孝彰
    • Organizer
      第122回日本眼科学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] Stickler症候群における傍血管網膜変性部の視機能2018

    • Author(s)
      冨士本一志 永田竜朗 松下五佳 林孝彰 日下俊次 近藤寛之
    • Organizer
      第122回日本眼科学会
    • Data Source
      KAKENHI-PROJECT-17K11441
  • [Presentation] 7歳時に診断されたStickler症候群の女児2018

    • Author(s)
      林孝彰 久保朗子 溝渕圭 片桐聡 大熊康弘 近藤寛之 中野匡
    • Organizer
      第43回日本小児眼科学会講習会
    • Data Source
      KAKENHI-PROJECT-17K11441
  • [Presentation] Ultra-wide field fundus autofluorescence in Stickler syndrome2018

    • Author(s)
      Fujimoto K, Nagata T, Matsushita I, Hayashi T, Kimoto K, Ohji M, Kusaka S, Kondo H
    • Organizer
      American Academy of Ophthalmology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] Mutation analysis of Japanese patients with Leber congenital amaurosis by next generation sequencing2018

    • Author(s)
      Hosono K, Nishina S, Yokoi T, Katagiri S, Kurata K, Miyamichi D, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
    • Organizer
      The Association for Research in Vision and Ophthalmology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] DRAM2関連網膜症の臨床像とその長期経過2018

    • Author(s)
      國吉一樹、亀谷修平、林孝彰、櫻本宏之、久保田大紀、片桐聡、藤波芳、角田和繁、岩田岳、日下俊次
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] 青錐体1色覚の新規遺伝子変異2018

    • Author(s)
      國吉一樹、林 孝彰、岩佐真紀、山下高廣、上山久雄、片桐 聡、櫻本宏之、宇野直樹、七田芳則、日下俊次
    • Organizer
      第57回日本網膜硝子体学会総会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] Occult maculopathyを伴った脊髄小脳変性症(SCA1)の一例2018

    • Author(s)
      廣瀬文音、藤波芳、野田徹、片桐聡、林孝彰、松浦知和、岩田岳、角田和繁
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] CDH3遺伝子変異による先天性の乏毛と黄斑ジストロフィを示した兄妹例2018

    • Author(s)
      片桐聡、林孝彰、後町清子、久保田大紀、溝渕圭、松浦知和、石氏陽三、朝比奈昭彦、亀谷修平、中野匡
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] 日本人Leber先天盲の次世代シークエンサーによる遺伝子変異解析2018

    • Author(s)
      細野克博、仁科幸子、林孝彰、倉田健太郎、横井匡、片桐聡、宮道大督、溝渕圭、佐藤美保、蓑島伸生、深見真紀、中野匡、近藤寛之、東範行、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] 抗TRPM1抗体による腫瘍随伴網膜症の臨床経過2018

    • Author(s)
      上野真治、井岡大樹、長坂絢美、安田俊介、森本壮、近藤峰生、片桐聡、林孝彰、寺崎浩子
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] Stickler 症候群における傍血管網膜変性部の視機能2018

    • Author(s)
      冨士本一志、永田竜朗、松下五佳、林孝彰、近藤寛之
    • Organizer
      第122回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] シンポジウム「どこまでできる?色覚異常に対するサポート」色覚異常と色覚検査2018

    • Author(s)
      林孝彰
    • Organizer
      第34回日本視機能看護学会学術総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] 杆体反応の増強を伴う錐体ジストロフィ症例の長期経過と遺伝学的解析2018

    • Author(s)
      久津間朋子、片桐聡、林孝彰、吉武和敏、月花環、神前賢一、溝渕圭、馬場悠花里、寺内稜、松浦知和、岩田岳、中野匡
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] Stickler症候群に見られる網膜傍血管変性の眼底自発蛍光所見2017

    • Author(s)
      冨士本一志, 永田竜朗, 松下五佳, 林孝彰, 久保田敏昭, 大路正人, 日下俊次, 近藤寛之
    • Organizer
      第121回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11441
  • [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
    • Data Source
      KAKENHI-PROJECT-26462674
  • [Presentation] 黄斑反射消失を契機に診断されたStickler症候群I型の1例2017

    • Author(s)
      林孝彰, 片桐聡, 溝渕圭, 松下五佳, 近藤寛之
    • Organizer
      第42回日本小児眼科学会総会
    • Data Source
      KAKENHI-PROJECT-17K11441
  • [Presentation] 遺伝性網膜ジストロフィと電気生理学的特徴」優性遺伝性家族性ドルーゼンの網膜電図所見2017

    • Author(s)
      林孝彰
    • Organizer
      第65回日本臨床視覚電気生理学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] ERGの現在・未来 網膜変性疾患のERG2017

    • Author(s)
      林孝彰
    • Organizer
      第121回日本眼科学会総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [Presentation] 色覚異常への対応 先天色覚異常の生理学と遺伝2017

    • Author(s)
      林孝彰
    • Organizer
      第71回 日本臨床眼科学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17K11434
  • [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
    • Organizer
      第70回 日本臨床眼科学会
    • Place of Presentation
      京都
    • Year and Date
      2016-11-03
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] シンポジウム「診断に苦慮した症例・珍しい症例」眼底に白点がみられた2例2016

    • Author(s)
      林 孝彰
    • Organizer
      第64回日本臨床視覚電気生理学会
    • Place of Presentation
      伊勢志摩
    • Year and Date
      2016-09-30
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] 家族歴聴取を契機に診断されたS錐体1色覚の1家系2016

    • Author(s)
      林 孝彰
    • Organizer
      第64回日本臨床視覚電気生理学会
    • Place of Presentation
      伊勢志摩
    • Year and Date
      2016-09-30
    • Data Source
      KAKENHI-PROJECT-25462738
  • [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
    • Data Source
      KAKENHI-PROJECT-26462674
  • [Presentation] 網膜色素変性の遺伝子異常と遺伝子解析について2016

    • Author(s)
      林 孝彰
    • Organizer
      第11回JRPS網脈絡膜変性フォーラム
    • Place of Presentation
      伊勢
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] サブスペシャリティサンデー「小児眼底疾患のアップデート」網膜変性・遺伝性疾患2016

    • Author(s)
      林 孝彰
    • Organizer
      120回日本眼科学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2016-04-07
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] シンポジウム「遺伝性網脈絡膜変性疾患の遺伝型と臨床型」遺伝性錐体機能不全の遺伝型と臨床型2016

    • Author(s)
      林 孝彰
    • Organizer
      120回日本眼科学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2016-04-07
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] コロイデレミアに合併した黄斑円孔が自然閉鎖を認めた1例2015

    • Author(s)
      石川邦裕、月花環、林孝彰、常岡寛
    • Organizer
      第54回日本網膜硝子体学会総会・第32回日本眼循環学会
    • Place of Presentation
      東京
    • Year and Date
      2015-12-04
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] 網膜硝子体ジストロフィのトータルケア-集中講義版-2015

    • Author(s)
      堀田喜裕、近藤寛之、近藤峰生、高橋政代、林孝彰
    • Organizer
      第69回 日本臨床眼科学会
    • Place of Presentation
      名古屋
    • Year and Date
      2015-10-22
    • Data Source
      KAKENHI-PROJECT-25462738
  • [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
    • Data Source
      KAKENHI-PROJECT-26462674
  • [Presentation] Autosomal Recessive Bestrophinopathyの2家系2015

    • Author(s)
      中西絢美、上野真治、林孝彰、片桐聡、岩田岳、寺崎浩子
    • Organizer
      第119回日本眼科学会総会
    • Place of Presentation
      札幌
    • Year and Date
      2015-04-16
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] Biallelic mutation of BEST1 causes ARB with varying degreees of severity in two Japanese families2015

    • Author(s)
      Nakaminishi A, Ueno S, Hayashi T, Katagiri S, Iwata T, Terasaki H.
    • Organizer
      The Association for Research in Vision and Ophthalmology
    • Place of Presentation
      Colorado, USA
    • Year and Date
      2015-05-03
    • Data Source
      KAKENHI-PROJECT-25462738
  • [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
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26462674
  • [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
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26462674
  • [Presentation] 新規」PRPH2(RDS/Peripherin)遺伝子変異を認めた常染色体優性網膜色素変性症の1家系2010

    • Author(s)
      林孝彰, ほか
    • Organizer
      第114回日本眼科学会総会
    • Place of Presentation
      名古屋
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] わが国のStickler症候群にみられたCOL2A1遺伝子異常とその臨床像2010

    • Author(s)
      近藤寛之、林孝彰, ほか
    • Organizer
      第114回日本眼科学会総会
    • Place of Presentation
      名古屋
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] シンポジウム12:色覚を科学する.遺伝性網脈絡膜・視神経疾患と色覚2009

    • Author(s)
      林孝彰
    • Organizer
      第45回日本眼光学学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] Clinical and molecular genetic analysis of Malattia Leventinese/Doyne honeycomb retinal dystrophy. 2009 Korea-Japan Joint Symposium of Clinical Electrophysiology of Vision2009

    • Author(s)
      Hayashi T
    • Organizer
      第57回日本臨床視覚電気生理学会学術集会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] Clinical and molecular genetic analysis of Malattia Leventinese/Doynehoneycomb retinal dystrophy2009

    • Author(s)
      Hayashi T.
    • Organizer
      Korea-Japan Joint Symposium of Clinical Electrophysiology of Vision
    • Place of Presentation
      千葉県浦安市
    • Year and Date
      2009-10-31
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] OPA1遺伝子変異が原因による常染色体優性視神経萎縮の黄斑機能2009

    • Author(s)
      高杉麻希、林孝彰, ほか
    • Organizer
      第50回日本視能矯正学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 日本人における滲出型AMDのゲノムワイド相関解析2009

    • Author(s)
      関麻子, (林孝彰), ほか
    • Organizer
      第113回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 黄斑部錐体機能低下による後天青黄色覚異常を合併した小口病2009

    • Author(s)
      並木祐子、林孝彰, ほか
    • Organizer
      第50回日本視能矯正学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 増殖糖尿病網膜症および錐体ジストロフィを合併した白点状眼底2009

    • Author(s)
      林孝彰, ほか
    • Organizer
      第63回日本臨床眼科学会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 増殖糖尿病網膜症および錐体ジストロフィを合併した白点状眼底2009

    • Author(s)
      林孝彰, 他
    • Organizer
      日本臨床眼科学会
    • Place of Presentation
      福岡
    • Year and Date
      2009-10-10
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 新規REP-1(CHM)遺伝子変異(IVS6-2A>T)を認めたコロイデレミアの1家系2008

    • Author(s)
      林孝彰, ほか
    • Organizer
      第112回日本眼科学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 63歳時に輪状暗点を契機に診断されSAG遺伝子変異(1147delA)が認められた小口病2008

    • Author(s)
      林孝彰, ほか
    • Organizer
      第62回日本臨床眼科学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 新規FZD4遺伝子変異(p. G530E)を認めた家族性惨出性硝子体網膜症.2008

    • Author(s)
      林孝彰, 他
    • Organizer
      第47回日本網膜硝子体学会
    • Place of Presentation
      京都
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 遺伝情報の眼科臨床応用への展望。色覚異常における遺伝情報の眼科臨床応用2007

    • Author(s)
      林孝彰.シンポジウム
    • Organizer
      第111回日本眼科学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 新規RS1遺伝子変異(p.E62DfxX22)を認めた若年網膜分離症の1家系.2007

    • Author(s)
      月花 環, 林孝 彰, 他
    • Organizer
      第111回日本眼科学会総会
    • Place of Presentation
      大阪
    • Year and Date
      2007-04-19
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] Improvement of S-cone mediated visual fields and rod function after correction of vitamin A deficiency2007

    • Author(s)
      Hayashi T, et al
    • Organizer
      European Association for Vision and Eye Research
    • Place of Presentation
      Pertoroz, Slovenia
    • Data Source
      KAKENHI-PROJECT-19592042
  • [Presentation] 網膜色素変性とその類縁疾患に対する遺伝子診断の最前線

    • Author(s)
      林 孝彰
    • Organizer
      第62回日本臨床視覚電気生理学会
    • Place of Presentation
      東京
    • Year and Date
      2014-10-03 – 2014-10-04
    • Invited
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] BEST1 mutations in Japanese patients with Best vitelliform macular dystrophy

    • Author(s)
      Katagiri S, Hayashi T, Sekiryu T, Gekka T, Akahori M, Sasano H, Ohkuma Y, Iwata T, Tsuneoka H
    • Organizer
      The Association for Research in Vision and Ophthalmology
    • Place of Presentation
      フロリダ
    • Year and Date
      2014-05-04 – 2014-05-08
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] A novel ALMS1 mutation (p.Q2051X) with Alström syndrome in one consanguineous Japanese family

    • Author(s)
      Katagiri S, Hayashi T, Akahori, Iwata T, Tsuneoka H
    • Organizer
      World Ophthalmology Congress 2014
    • Place of Presentation
      東京
    • Year and Date
      2014-04-02 – 2014-04-06
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] Whole exome analysis identifies frequent cnga1 mutations in japanese population with autosomal recessive retinitis pigmentosa

    • Author(s)
      Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Kazuho Ikeo K, Furuno M, Hayashi T, Mineo Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Sasano H, Ohkuma Y, Tsuneoka H, Iwata T
    • Organizer
      XXI Biennial Meeting of the International Society for Eye Research (ISER)
    • Place of Presentation
      サンフランシスコ
    • Year and Date
      2014-07-20 – 2014-07-24
    • Data Source
      KAKENHI-PROJECT-25462738
  • [Presentation] Adaptive optics fundus camera reveals parafoveal cone loss in peripheral cone dystrophy

    • Author(s)
      Itoh N, Hayashi T, Gocho K, Kameya S, Tsuneoka H.
    • Organizer
      World Ophthalmology Congress 2014
    • Place of Presentation
      東京
    • Year and Date
      2014-04-02 – 2014-04-06
    • Data Source
      KAKENHI-PROJECT-25462738
  • []

  • 1.  Kondo Hiroyuki (40268991)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 12 results
  • 2.  Tsunoda Kazushige (30255525)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 9 results
  • 3.  日下 俊次 (60260387)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 4.  大路 正人 (90252650)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 5.  國吉 一樹 (30234470)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 7 results
  • 6.  松下 賢治 (40437405)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 7.  上野 真治 (80528670)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 8 results
  • 8.  大出 尚郎
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 9.  松永 達雄
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 10.  安富 大祐
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 11.  AZUMA Noriyuki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 12.  HOTTA Yoshihiro
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 13.  HOSONO Katsuhiro
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 14.  扇田 久和
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 15.  篠田 啓
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 16.  近藤 峰生
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 17.  亀谷 修平
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 18.  田中 卓
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 19.  寺崎 浩子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 7 results
  • 20.  伊藤 逸毅
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 21.  池尾 一穂
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 22.  岩田 岳
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 6 results
  • 23.  大石 明生
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 24.  赤堀 正和
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 25.  松本 直通
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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