• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Construction of a comprehensive regional medical system and development of diagnostic method for rare and undiagnosed eye disease patients in Japan

Research Project

Project/Area Number 17K11447
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Ophthalmology
Research InstitutionHamamatsu University School of Medicine

Principal Investigator

Hotta Yoshihiro  浜松医科大学, 医学部, 教授 (90173608)

Co-Investigator(Kenkyū-buntansha) 東 範行  国立研究開発法人国立成育医療研究センター, 感覚器・形態外科部, 診療部長 (10159395)
近藤 寛之  産業医科大学, 医学部, 教授 (40268991)
細野 克博  浜松医科大学, 医学部, 助教 (60402260)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords希少眼疾患 / 変異解析 / 次世代シークエンサー / ターゲットシークエンス解析 / 未診断眼疾患患者 / 遺伝子診断 / 未診断眼疾患 / 遺伝子解析
Outline of Final Research Achievements

It is difficult to make an accurately diagnosis by only the image diagnosis methods for rare and undiagnosed eye disease patients, who have clinical ocular findings and could not be diagnosed by ordinary medical care. Therefore, we collected the rare and undiagnosed eye disease patients in Japan using the comprehensive regional medical system constructed in this study, and performed mutation analysis using next generation sequencer for the patients.
The results of the analysis revealed the phenotype-genotype correlations of male patients and female carriers in 12 families with X-linked retinitis pigmentosa. In additions, we performed the genomic analysis of five incontinentia pigmenti patients and revealed the recurrent exon 4-10 deletion in the known causative gene IKBKG.

Academic Significance and Societal Importance of the Research Achievements

臨床的な眼所見を有しながら通常の医療の中で診断に至る事が困難な未診断眼疾患患者は、複数の医療機関を受診しても原因がわからず治療法も見つからないまま長期に渡って様々な症状に悩まされている。これら患者は、通常の眼科検査を適切に行うことによって診断可能な場合もあるが、症例数が少なく診断が困難な希少眼疾患患者のこともある。本研究はわが国の希少・未診断眼疾患患者に対して地域網羅的な診療体制を構築して患者収集を行い、網羅的な遺伝子変異解析による遺伝子検査を行うものである。本研究により診断が確定された症例の臨床情報と遺伝学的情報は論文や学会報告を行い情報共有し、各医療機関間で将来の診断の為に活用されている。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (60 results)

All 2019 2018 2017

All Journal Article (17 results) (of which Int'l Joint Research: 6 results,  Peer Reviewed: 17 results,  Open Access: 8 results) Presentation (41 results) (of which Int'l Joint Research: 8 results,  Invited: 8 results) Book (2 results)

  • [Journal Article] 特集 第72回日本臨床眼科学会講演集[1] 原著 RDH12遺伝子変異による網膜色素変性症の1例2019

    • Author(s)
      武田 優, 倉田 健太郎, 細野 克博, 堀田 喜裕
    • Journal Title

      臨床眼科

      Volume: 73 Issue: 3 Pages: 307-314

    • DOI

      10.11477/mf.1410213074

    • ISSN
      0370-5579, 1882-1308
    • Year and Date
      2019-03-15
    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [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 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Phenotypic features of Oguchi disease and retinitis pigmentosa in patients with SAG mutations. A long-term follow-up study2019

    • Author(s)
      Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda K-H, Murakami A, Nakazawa M, Nakazawa T, Abe T.
    • Journal Title

      Ophthalmology

      Volume: 126 Issue: 11 Pages: 1557-1565

    • DOI

      10.1016/j.ophtha.2019.05.027

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.2019

    • Author(s)
      Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH.
    • Journal Title

      Jounal of Medical Genetics

      Volume: 56 Issue: 10 Pages: 662-670

    • DOI

      10.1136/jmedgenet-2018-105691

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.2019

    • Author(s)
      Haque MN, Kurata K, Hosono K, Ohtsubo M, Ohishi K, Sato M, Minoshima S, Hotta Y
    • Journal Title

      Hum Genome Var

      Volume: 6:18 Issue: 1

    • DOI

      10.1038/s41439-019-0048-8

    • Related Report
      2019 Annual Research 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
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] 診断にRETevalが有用であった発達障害を伴うLeber先天盲の一例2019

    • Author(s)
      瀧伶、鈴木寛子、倉田健太郎、古森美和、細野克博、彦谷明子、佐藤美保、堀田喜裕
    • Journal Title

      眼臨紀

      Volume: 12(1) Pages: 49-53

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa2018

    • Author(s)
      Kurata Kentaro、Hosono Katsuhiro、Hotta Yoshihiro
    • Journal Title

      Documenta Ophthalmologica

      Volume: 137 Issue: 1 Pages: 47-56

    • DOI

      10.1007/s10633-018-9649-7

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [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 K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y
    • Journal Title

      Molecular Vision

      Volume: 24 Pages: 286-296

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations2018

    • Author(s)
      Kurata Kentaro、Hosono Katsuhiro、Hikoya Akiko、Kato Akihiko、Saitsu Hirotomo、Minoshima Shinsei、Ogata Tsutomu、Hotta Yoshihiro
    • Journal Title

      Japanese Journal of Ophthalmology

      Volume: 62 Issue: 4 Pages: 458-466

    • DOI

      10.1007/s10384-018-0591-8

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Long-term clinical course of two Japanese patients with PRPF31-related retinitis pigmentosa2018

    • Author(s)
      10.1007/s10384-017-0560-7
    • Journal Title

      Jpn. J. Ophthalmol .

      Volume: 62(2) Issue: 2 Pages: 186-193

    • DOI

      10.1007/s10384-017-0560-7

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations2017

    • Author(s)
      Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, Mizuta K, Mineta K, Minoshima S and Hotta Y
    • Journal Title

      Semin. Ophthalmol.

      Volume: 印刷中 Issue: 4 Pages: 560-565

    • DOI

      10.1080/08820538.2017.1340487

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] ATYPICAL FORM OF RETINOPATHY OF PREMATURITY WITH SEVERE FIBROVASCULAR PROLIFERATION IN THE OPTIC DISC REGION2017

    • Author(s)
      Yokoi T, Katagiri S, Hiraoka M, Nakayama Y, Hosono K, Hotta Y, Nishina S, Azuma N
    • Journal Title

      RETINA

      Volume: 印刷中 Issue: 8 Pages: 1-1

    • DOI

      10.1097/iae.0000000000001779

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Long-term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness2017

    • Author(s)
      Kurata K, Hosono K and Hotta Y.
    • Journal Title

      Case Rep. Ophthalmol.

      Volume: 8(1) Issue: 1 Pages: 237-244

    • DOI

      10.1159/000462961

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Retinitis pigmentosa in Japanese population2017

    • Author(s)
      Hosono K, Minoshima S, Hotta Y
    • Journal Title

      Essentials in Ophthalmology Advances in Vision Research

      Volume: volume I Pages: 111-128

    • DOI

      10.1007/978-4-431-56511-6_11

    • ISBN
      9784431565093, 9784431565116
    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [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)
      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
    • Related Report
      2019 Annual Research Report
  • [Presentation] Fine analysis of IKBKG in a Japanese boy and 3 girls with incontinentia pigmenti2019

    • Author(s)
      ハック ムハンマド ナズムール、大坪正史、仁科幸子、中尾志郎、細野克博、倉田健太郎、大石健太郎、佐藤美保、堀田喜裕、蓑島伸生、東範行
    • Organizer
      第123回日本眼科学会総会
    • Related Report
      2019 Annual Research 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 Annual Research Report
  • [Presentation] Molecular diagnosis of 34 Japanese families with Leber congenital amaurosis using targeted next generation sequencing2019

    • Author(s)
      細野克博、東範行、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合同学会総会 合同学会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 遺伝子診断による治療って可能なの?2019

    • Author(s)
      堀田喜裕
    • Organizer
      JRPSの会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] SAG変異を病院とする小口病と網膜色素変性の臨床表現型比較2019

    • Author(s)
      西口康二、池田康博、細野克博、和田裕子、園田康平、堀田喜裕、村上晶、中澤満、中澤徹、阿部俊明
    • Organizer
      第67回日本臨床視覚電気生理学会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 遺伝子検査のメリットとデメリット2019

    • Author(s)
      堀田喜裕
    • Organizer
      第14回JRPS網脈絡変性フォーラム
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 遺伝性網膜疾患の診療2019

    • Author(s)
      堀田喜裕
    • Organizer
      第54回京都眼科フォーラム
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] X連鎖性網膜色素変性キャリアーの視機能2019

    • Author(s)
      堀田喜裕
    • Organizer
      第21回Japan Macula Club
    • Related Report
      2019 Annual Research Report
  • [Presentation] 遺伝性網膜疾患の診療2019

    • Author(s)
      堀田喜裕
    • Organizer
      Novartis Pharma Web Symposium
    • Related Report
      2019 Annual Research Report
  • [Presentation] 網膜ジストロフィのクリニカルシークエンス2019

    • Author(s)
      堀田喜裕
    • Organizer
      第73回日本臨床眼科学会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] インストラクションコース「網膜硝子体ジストロフィの診療の実際」2019

    • Author(s)
      近藤寛之、近藤峰生、林孝彰、髙橋政代、堀田喜裕
    • Organizer
      第73回日本臨床眼科学会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 静岡エリアにおける小児・成人IRUD拠点病院の確立2019

    • Author(s)
      緒方勤、才津浩智、堀田喜裕
    • Organizer
      IRUD令和元年度班会議
    • Related Report
      2019 Annual Research Report
  • [Presentation] Targeted resequencing of 83 causative genes in 1,204 Japanese patients with retinitis pigmentosa2019

    • Author(s)
      Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda K
    • Organizer
      The 19th EURETINA Congress
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [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
    • Related Report
      2018 Research-status Report
  • [Presentation] Long-term clinical course of Japanese patients with retinitis pigmenosa caused by mutations in pre-mRNA splicing gene2018

    • Author(s)
      Kurata K, Hosono K, Hotta Y
    • Organizer
      ARVO2018
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [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
      ARVO2018
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] 次世代シークエンサーを用いた日本人Leber先天盲の遺伝子変異解析2018

    • Author(s)
      細野克博、東範行、堀田喜裕
    • Organizer
      第66回日本臨床視覚電気生理学会
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] Molecular Analysis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing2018

    • Author(s)
      Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
    • Organizer
      日本人類遺伝学会第63回大会
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] RPE65 変異により重度網膜視機能障害および斑点を認めた網膜ジストロフィ2018

    • Author(s)
      林孝彰、細野克博、片桐聡、倉田健太郎、溝渕圭、月花環、岩田岳、中野匡、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Related Report
      2018 Research-status Report
  • [Presentation] FOXC1遺伝子を含む6p25領域に欠失が示唆された早発型発達緑内障の1例2018

    • Author(s)
      新美佑介、川瀬和秀、山本哲也、山本崇裕、倉田健太郎、立花信貴、細野克博、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Related Report
      2018 Research-status Report
  • [Presentation] 遺伝子検査のメリットとデメリット2018

    • Author(s)
      堀田喜裕
    • Organizer
      JRPSとちぎ 第38回医療講演
    • Related Report
      2018 Research-status Report
  • [Presentation] RP1遺伝子変異による常染色体劣性網膜色素変性症の1例2018

    • Author(s)
      倉田健太郎,細野克博,堀田喜裕
    • Organizer
      第437回東海眼科学会
    • Related Report
      2018 Research-status Report
  • [Presentation] 日本人錐体桿体ジストロフィー家系から検出された新規変異と文献情報を併用した遺伝子型-表現型関連解析2018

    • Author(s)
      Nazmul Haque、大坪正史、細野克博、倉田健太郎、大石健太郎、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第25回日本遺伝子診療学会大会
    • Related Report
      2018 Research-status Report
  • [Presentation] 網膜ジストロフィの最近の話題2018

    • Author(s)
      堀田喜裕
    • Organizer
      順天堂大学眼科 合同症例検討会
    • Related Report
      2018 Research-status Report
  • [Presentation] 網膜ジストロフィの診療2018

    • Author(s)
      堀田喜裕
    • Organizer
      第49回東海北陸地区ブロック講習会
    • Related Report
      2018 Research-status Report
  • [Presentation] GNAT1変異を認めた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、溝渕 圭、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
    • Related Report
      2018 Research-status Report
  • [Presentation] 網膜色素変性と類縁疾患の診療2018

    • Author(s)
      堀田喜裕
    • Organizer
      第38回眼科医療フォーラム
    • Related Report
      2018 Research-status Report
  • [Presentation] 本邦における網膜色素変性1,204例の次世代シークエンスから得られた遺伝的特徴2018

    • Author(s)
      小栁俊人、秋山雅人、西口康二、桃沢幸秀、鎌谷洋一郎、高田定暁、稲井智栄、岩崎雄介、村上祐介、熊野美香子、面高宗子、阿部俊明、小森汐里、高丹、平形寿彬、倉田健太郎、細野克博、上野真治、堀田喜裕、村上晶、寺﨑浩子、和田裕子、中澤徹、池田康博、久保充明、園田康平
    • Organizer
      第72回日本臨床眼科学会
    • Related Report
      2018 Research-status Report
  • [Presentation] 遺伝性網脈絡膜変性疾患 -遺伝子検査、網膜検査への対応 インストラクションコース2018

    • Author(s)
      堀田喜裕、近藤寛之、近藤峰生、高橋政代、林孝彰
    • Organizer
      第72回日本臨床眼科学会
    • Related Report
      2018 Research-status Report
  • [Presentation] RDH12遺伝子変異による網膜色素変性症の1例2018

    • Author(s)
      武田優、倉田健太郎、細野克博、堀田喜裕
    • Organizer
      第72回日本臨床眼科学会
    • Related Report
      2018 Research-status Report
  • [Presentation] CDHR1遺伝子に新規変異を認めた日本人錐体杆体ジストロフィー成人発症兄妹例2018

    • Author(s)
      Nazmul Haque、倉田健太郎、細野克博、大坪正史、大石健太郎、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第72回日本臨床眼科学会
    • Related Report
      2018 Research-status Report
  • [Presentation] 小児遺伝性網膜疾患の診療2018

    • Author(s)
      堀田喜裕
    • Organizer
      愛宕眼科フォーラム
    • Related Report
      2018 Research-status Report
  • [Presentation] Six cases with Leber congenital amaurosis associated with Coats-like vasculopathy2018

    • Author(s)
      Ogawa H, Nishina S, Yokoi T, Tanaka S, Nakao S, Yoshida T, Fukami M, Hosono K, Hotta Y, Azuma N
    • Organizer
      第57回日本網膜硝子体学会総会
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] 静岡エリアにおける小児・成人IRUD拠点病院の確立2018

    • Author(s)
      緒方勤、才津浩智、堀田喜裕
    • Organizer
      IRUD平成30年度 第二回班会議
    • Related Report
      2018 Research-status Report
  • [Presentation] Resequencing of 83 causative genes in 1,204 Japanese patients with retinitis pigmentosa2018

    • Author(s)
      Koyanagi Y, Akiyama M, Nishiguchi K, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda K
    • Organizer
      The 11th Joint Meeting of Japan-China-Korea Ophthalmologists
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness2018

    • Author(s)
      Hideki Iida, Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
    • Organizer
      APAO
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Leber先天盲の1家系3症例のターゲットシークエンス解析2017

    • Author(s)
      堀田喜裕、仁科幸子、細野克博、宮道大督、横井匡、倉田健太郎、彦谷明子、佐藤美保、深見真紀、蓑島伸生、東範行
    • Organizer
      第24回日本遺伝子診療学会
    • Related Report
      2017 Research-status Report
  • [Presentation] レーバー先天盲の日本人患者に対する次世代シークエンサーを用いた遺伝子診断2017

    • Author(s)
      堀田喜裕
    • Organizer
      第19回Japan Macula Club
    • Related Report
      2017 Research-status Report
  • [Presentation] Changes in Macular Structure and Retinal Function in Patients with Leber Congenital Amaurosis with RPGRIP1 Mutations2017

    • Author(s)
      Daisuke Miyamichi, Sachiko Nishina, Katsuhiro Hosono, Tadashi Yokoi, Kentaro Kurata, Miho Sato, Shinsei Minoshima, Maki Fukami, Yoshihiro Hotta, Noriyuki Azuma
    • Organizer
      ARVO
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] Long-Term Clinical Course In A Patient With Complete Congenital Stationary Night Blindness2017

    • Author(s)
      Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
    • Organizer
      ISGEDR
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Book] あたらしい眼科2019

    • Author(s)
      堀田喜裕、細野克博、倉田健太郎
    • Total Pages
      9
    • Publisher
      メディカル葵出版
    • Related Report
      2019 Annual Research Report
  • [Book] 現代の眼科学 改訂第13版2018

    • Author(s)
      所 敬、吉田 晃敏、谷原 秀信
    • Total Pages
      408
    • Publisher
      金原出版
    • ISBN
      9784307351683
    • Related Report
      2017 Research-status Report

URL: 

Published: 2017-04-28   Modified: 2023-03-16  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi