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Identification and analysis of the gene responsible for periodic strabismus

Research Project

Project/Area Number 19K10004
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 56060:Ophthalmology-related
Research InstitutionNational Center for Child Health and Development

Principal Investigator

Nishina Sachiko  国立研究開発法人国立成育医療研究センター, 小児外科系専門診療部, 診療部長 (40237954)

Project Period (FY) 2019-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2021: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2020: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords斜視 / 周期性斜視 / 概日リズム / モデル生物 / 難治性眼疾患
Outline of Research at the Start

周期性斜視とは、斜視の日と斜視のない日が周期的に交代する特殊な斜視であり、原因は不明である。48時間もしくは24時間周期が次第に崩れて恒常性となり、手術治療を契機に斜視が軽快するがその機序も明らかでない。本研究では、特殊な斜視である「周期性斜視」の遺伝的要因の同定を目的とする。

Outline of Final Research Achievements

Periodic strabismus is a special type of strabismus in which days of strabismus and days without strabismus alternate periodically. However, its molecular mechanism is unknown. In this study, we aimed to identify the genetic factors of periodic strabismus. We have examined genomic analysis (exon analysis) of patients with periodic strabismus and their families. As a result, we identified a gene involved in the regulation of neural function and circadian rhythm on the X chromosome as one of the candidate genes.

Academic Significance and Societal Importance of the Research Achievements

視覚は高度な感覚機構であり、角膜・水晶体・瞳孔・硝子体・網膜・視神経・外眼筋・視覚中枢に至るまで神経系や筋肉、血管系を含む複数の組織から構成される器官で担われており、構造あるいは機能の少しの乱れでも疾患に至る。小児期に起こる斜視は両眼視機能の不可逆的な障害を生じ、生涯にわたるQOL低下をきたす頻度の高い難治性疾患である。本研究成果は、未だ不明な点が多い周期性斜視の原因を遺伝子の視点から解明する点に学術的意義がある。また、本研究成果から一般的な斜視の病態を解明する契機となると期待され、新たな視点からの治療法の開発に繋がる社会的意義を持つ。

Report

(4 results)
  • 2021 Annual Research Report   Final Research Report ( PDF )
  • 2020 Research-status Report
  • 2019 Research-status Report
  • Research Products

    (46 results)

All 2022 2021 2020 2019

All Journal Article (26 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 11 results,  Open Access: 11 results) Presentation (13 results) (of which Int'l Joint Research: 2 results,  Invited: 5 results) Book (7 results)

  • [Journal Article] Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa2022

    • Author(s)
      Tachibana Nobutaka、Hosono Katsuhiro、Nomura Shuhei、Arai Shinji、Torii Kaoruko、Kurata Kentaro、Sato Miho、Shimakawa Shuichi、Azuma Noriyuki、Ogata Tsutomu、Wada Yoshinao、Okamoto Nobuhiko、Saitsu Hirotomo、Nishina Sachiko、Hotta Yoshihiro
    • Journal Title

      Genes

      Volume: 13 Issue: 2 Pages: 359-359

    • DOI

      10.3390/genes13020359

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Effectiveness of the Spot Vision Screener in screening 3-year-old children with potential amblyopia in Japan2021

    • Author(s)
      Hayashi Shion、Suzuki Issaku、Inamura Akira、Iino Yaoko、Nishitsuka Koichi、Nishina Sachiko、Yamashita Hidetoshi
    • Journal Title

      Japanese Journal of Ophthalmology

      Volume: 65 Issue: 4 Pages: 537-545

    • DOI

      10.1007/s10384-021-00823-x

    • NAID

      40022621293

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome2021

    • Author(s)
      Nishina Sachiko、Hosono Katsuhiro、Ishitani Shizuka、Kosaki Kenjiro、Yokoi Tadashi、Yoshida Tomoyo、Tomita Kaoru、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu、Ishitani Tohru、Hotta Yoshihiro、Azuma Noriyuki
    • Journal Title

      Journal of Human Genetics

      Volume: - Issue: 10 Pages: 1021-1027

    • DOI

      10.1038/s10038-021-00909-x

    • Related Report
      2021 Annual Research Report 2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism2020

    • Author(s)
      Haque Muhammad Nazmul、Ohtsubo Masafumi、Nishina Sachiko、Nakao Shiro、Yoshida Kazue、Hosono Katsuhiro、Kurata Kentaro、Ohishi Kentaro、Fukami Maki、Sato Miho、Hotta Yoshihiro、Azuma Noriyuki、Minoshima Shinsei
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 2 Pages: 205-214

    • DOI

      10.1038/s10038-020-00836-3

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Structure of the Retinal Margin and Presumed Mechanism of Retinal Detachment in Choroidal Coloboma2020

    • Author(s)
      Tanaka Shin、Yokoi Tadashi、Katagiri Satoshi、Yoshida-Uemura Tomoyo、Nishina Sachiko、Azuma Noriyuki
    • Journal Title

      Ophthalmology Retina

      Volume: - Issue: 7 Pages: 702-710

    • DOI

      10.1016/j.oret.2020.10.012

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti2020

    • Author(s)
      Nakao Shiro、Nishina Sachiko、Tanaka Shin、Yoshida Tomoyo、Yokoi Tadashi、Azuma Noriyuki
    • Journal Title

      Japanese Journal of Ophthalmology

      Volume: 64 Issue: 6 Pages: 613-620

    • DOI

      10.1007/s10384-020-00768-7

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] 周期性斜視9例の臨床像と治療経過2020

    • Author(s)
      堤典子、仁科幸子、吉田朋世、横井匡、東範行
    • Journal Title

      日眼会誌

      Volume: 124 Pages: 995-1002

    • NAID

      40022441968

    • Related Report
      2020 Research-status Report
  • [Journal Article] 医療機関と教育機関の連携による小児のロービジョンケア2020

    • Author(s)
      三井田千春、仁科幸子、石井杏奈、松岡真未、松井孝子、吉田朋世、横井匡、岡前むつみ、大橋智、上條有康、山田和歌奈、相賀直、東範行
    • Journal Title

      眼臨紀

      Volume: 13 Pages: 655-661

    • NAID

      40022382615

    • Related Report
      2020 Research-status Report
  • [Journal Article] ビタミンA欠乏による眼球乾燥症をきたしたダウン症児の一例2020

    • Author(s)
      八木-小川瞳、仁科幸子、横井匡、永井章、阪下和美、中村早希、東範行
    • Journal Title

      眼臨紀

      Volume: 13 Pages: 419-423

    • Related Report
      2020 Research-status Report
  • [Journal Article] (亜)急性後天共同性内斜視に関する全国調査―デジタルデバイスとの関連について―2020

    • Author(s)
      飯森宏仁、佐藤美保、鈴木寛子、彦谷明子、堀田喜裕、吉田朋世、仁科幸子、東範行
    • Journal Title

      眼臨紀

      Volume: 13 Pages: 42-47

    • Related Report
      2020 Research-status Report
  • [Journal Article] Information and communication technology機器と斜視に関するアンケート調査2020

    • Author(s)
      吉田朋世、仁科幸子、三井田千春、赤池祥子、横井匡、東範行
    • Journal Title

      眼臨紀

      Volume: 13 Pages: 34-41

    • Related Report
      2020 Research-status Report
  • [Journal Article] 外直筋鼻側移動術を施行した動眼神経麻痺の一例.2020

    • Author(s)
      中尾志郎、仁科幸子、八木瞳、田中慎、吉田朋世、横井匡、東範行
    • Journal Title

      眼臨紀

      Volume: 13 Pages: 105-110

    • Related Report
      2020 Research-status Report
  • [Journal Article] 小児の斜視診療. 特集 斜視―基本から実践まで.2020

    • Author(s)
      仁科幸子
    • Journal Title

      オクリスタ

      Volume: 93 Pages: 20-28

    • NAID

      40022459804

    • Related Report
      2020 Research-status Report
  • [Journal Article] 斜視とスマートフォン. 特集 スマホと眼 Pros&Cons.2020

    • Author(s)
      吉田朋世・仁科幸子
    • Journal Title

      オクリスタ

      Volume: 88 Pages: 21-27

    • NAID

      40022315585

    • Related Report
      2020 Research-status Report
  • [Journal Article] 眼疾患. 特集 遺伝情報と遺伝カウンセリング2020

    • Author(s)
      仁科幸子
    • Journal Title

      小児内科

      Volume: 52 Pages: 1095-1099

    • Related Report
      2020 Research-status Report
  • [Journal Article] デジタルデバイスと急性内斜視2020

    • Author(s)
      仁科幸子
    • Journal Title

      日本の眼科

      Volume: 91 Pages: 338-339

    • Related Report
      2020 Research-status Report
  • [Journal Article] フォトスクリーナーによる弱視の早期発見2020

    • Author(s)
      仁科幸子
    • Journal Title

      保育と保健

      Volume: 26 Pages: 102-104

    • Related Report
      2020 Research-status Report
  • [Journal Article] 角膜の先天・周産期異常、網膜の周産期・発育異常2020

    • Author(s)
      仁科幸子
    • Journal Title

      眼科学

      Volume: 3 Pages: 11-113

    • Related Report
      2020 Research-status Report
  • [Journal Article] 網膜の周産期・発育異常2020

    • Author(s)
      仁科幸子
    • Journal Title

      眼科学

      Volume: 3 Pages: 349-351

    • Related Report
      2020 Research-status Report
  • [Journal Article] 未熟児網膜症に対する抗VEGF療法の手引き2020

    • Author(s)
      寺﨑浩子、東範行、北岡隆、日下俊次、近藤寛之、仁科幸子、盛隆興、山田昌和、吉冨健志.
    • Journal Title

      日眼会誌

      Volume: 124 Pages: 1013-1019

    • Related Report
      2020 Research-status Report
  • [Journal Article] 厚生労働科学研究費難治性疾患政策研究事業希少難治性角膜疾患の疫学調査研究班, 角膜難病の標準的診断法および治療法の確立を目指した調査研究班:前眼部形成異常の診断基準および重症度分類2020

    • Author(s)
      重安千花,山田昌和,大家義則,川崎諭,東範行,仁科幸子,木下茂,外園千恵,大橋裕一,白石敦,坪田一男,榛村重人,村上晶,島﨑潤,宮田和典, 前田直之, 山上聡, 臼井智彦, 西田幸二
    • Journal Title

      日眼会誌

      Volume: 124 Pages: 89-95

    • Related Report
      2020 Research-status Report
  • [Journal Article] Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations2019

    • Author(s)
      Miyamichi Daisuke、Nishina Sachiko、Hosono Katsuhiro、Yokoi Tadashi、Kurata Kentaro、Sato Miho、Hotta Yoshihiro、Azuma Noriyuki
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 1-1

    • DOI

      10.1038/s41439-019-0064-8

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] SEVERE RECURRENT FIBROVASCULAR PROLIFERATION AFTER COMBINED INTRAVITREAL BEVACIZUMAB INJECTION AND LASER PHOTOCOAGULATION FOR AGGRESSIVE POSTERIOR RETINOPATHY OF PREMATURITY2019

    • Author(s)
      Tanaka Shin、Yokoi Tadashi、Katagiri Satoshi、Yoshida Tomoyo、Nishina Sachiko、Azuma Noriyuki
    • Journal Title

      Retinal Cases & Brief Reports

      Volume: 1 Issue: 6 Pages: 1-1

    • DOI

      10.1097/icb.0000000000000887

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [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

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Optical coherence tomography and video recording of a case of bilateral contractile peripapillary staphyloma2019

    • Author(s)
      Yoshida Tomoyo、Katagiri Satoshi、Yokoi Tadashi、Nishina Sachiko、Azuma Noriyuki
    • Journal Title

      American Journal of Ophthalmology Case Reports

      Volume: 13 Pages: 66-69

    • DOI

      10.1016/j.ajoc.2018.12.002

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] The clock components Period2, Cryptochrome1a, and Cryptochrome2a function in establishing light-dependent behavioral rhythms and/or total activity levels in zebrafish2019

    • Author(s)
      Hirayama J, Alifu Y, Hamabe R, Yamaguchi S, Tomita J, Maruyama Y, Asaoka Y , Nakahama K, Tamaru T, Takamatsu K, Takamatsu N, Hattori A, Nishina S, Azuma N, Kawahara A, Kume K, Nishina H.
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1 Pages: 196-196

    • DOI

      10.1038/s41598-018-37879-8

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] Child that failed vision screening in school--what next? Invited speaker of the Symposium “What not to miss in pediatric ophthalmology and strabismus2021

    • Author(s)
      Nishina S.
    • Organizer
      36th APAO Congress
    • Related Report
      2021 Annual Research Report
    • Int'l Joint Research
  • [Presentation] The current trend of vision screening for young children in Japan. Invited speaker of the Hillrom Symposium2021

    • Author(s)
      Nishina S.
    • Organizer
      36th APAO Congress
    • Related Report
      2021 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 小児眼科診療のアップデート2021

    • Author(s)
      仁科幸子
    • Organizer
      日本眼科医会第80回生涯教育講座
    • Related Report
      2021 Annual Research Report
    • Invited
  • [Presentation] コロナ禍で変わる日常、子どもの目をどう守るか.2021

    • Author(s)
      仁科幸子
    • Organizer
      日本学術会議臨床医学委員会感覚器分科会
    • Related Report
      2021 Annual Research Report
    • Invited
  • [Presentation] 小児の視覚に対するICT機器の影響2021

    • Author(s)
      仁科幸子
    • Organizer
      第222回長崎眼科集談会
    • Related Report
      2021 Annual Research Report
    • Invited
  • [Presentation] PRPS1遺伝子変異を同定した左右差のあるLeber先天黒内障女児の1例.2020

    • Author(s)
      仁科幸子、細野克博、横井匡、吉田朋世、深見真紀、木村肇二郎、森隆史、堀田喜裕、東範行
    • Organizer
      第59回日本網膜硝子体学会総会
    • Related Report
      2020 Research-status Report
  • [Presentation] 網膜ジストロフィーを発症したCDK9変異による多発奇形症候群の1例2020

    • Author(s)
      仁科幸子、細野克博、横井匡、吉田朋世、富田香、深見真紀、小崎健次郎、堀田喜裕、東範行
    • Organizer
      第45回日本小児眼科学会総会
    • Related Report
      2020 Research-status Report
  • [Presentation] 未熟児網膜症診療録データベース化に向けた標準化の試み2020

    • Author(s)
      太刀川貴子、清田眞理子、齋藤雄太、東範行、仁科幸子、丸子一朗、根岸貴志、野田英一郎、松本直、外山琢
    • Organizer
      第45回日本小児眼科学会総会
    • Related Report
      2020 Research-status Report
  • [Presentation] 乳幼児の前眼部疾患ファーストステップ2020

    • Author(s)
      仁科幸子
    • Organizer
      第7回雪明・新潟眼科フォーラム
    • Related Report
      2019 Research-status Report
    • Invited
  • [Presentation] インストラクションコース23 やさしい神経眼科2019

    • Author(s)
      仁科幸子
    • Organizer
      第73回日本臨床眼科学会
    • Related Report
      2019 Research-status Report
  • [Presentation] 乳幼児健診の現状と今後.ランチョンセミナー1眼科健診の現状と今後.2019

    • Author(s)
      仁科幸子
    • 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合同学会
    • Related Report
      2019 Research-status Report
  • [Presentation] X連鎖性レーバー先天盲2症例の臨床像2019

    • Author(s)
      仁科幸子、細野克博、横井匡、倉田健太郎、吉田朋世、深見真紀、堀田喜裕、東範行
    • Organizer
      第123回日本眼科学会総会
    • Related Report
      2019 Research-status Report
  • [Presentation] 乳幼児の視覚スクリーニング2019

    • Author(s)
      仁科幸子
    • Organizer
      東京都眼科医会 第30回医療従事者講習会
    • Related Report
      2019 Research-status Report
    • Invited
  • [Book] 眼疾患2021

    • Author(s)
      仁科幸子ら
    • Total Pages
      200
    • Publisher
      診断と治療社
    • Related Report
      2021 Annual Research Report
  • [Book] 視覚器の異常2021

    • Author(s)
      仁科幸子ら
    • Total Pages
      100
    • Publisher
      診断と治療社
    • Related Report
      2021 Annual Research Report
  • [Book] 3歳児健診における視覚検査マニュアル~屈折検査の導入に向けて2021

    • Author(s)
      仁科幸子ら
    • Total Pages
      100
    • Publisher
      日本眼科医会
    • Related Report
      2021 Annual Research Report
  • [Book] 眼科学 第3版2020

    • Author(s)
      仁科幸子(分担執筆)
    • Total Pages
      1768
    • Publisher
      文光堂
    • Related Report
      2019 Research-status Report
  • [Book] 小児の近視 診断と治療2019

    • Author(s)
      仁科幸子(分担執筆)
    • Total Pages
      259
    • Publisher
      三輪書店
    • Related Report
      2019 Research-status Report
  • [Book] 小児科診療ガイドライン―最新の治療指針―第4版2019

    • Author(s)
      仁科幸子(分担執筆)
    • Total Pages
      768
    • Publisher
      総合医学社
    • Related Report
      2019 Research-status Report
  • [Book] 眼科疾患 最新の治療2019-20212019

    • Author(s)
      仁科幸子(分担執筆)
    • Total Pages
      392
    • Publisher
      南江堂
    • Related Report
      2019 Research-status Report

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Published: 2019-04-18   Modified: 2023-01-30  

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