Japan Eye Genetics Consortium (JEGC)

JEGCの紹介

JEGC (Japan Eye Genetics Consortium, 日本眼科遺伝学コンソーシアム）は、日本人における遺伝性網膜疾患、遺伝性視神経萎縮症、そして家族性緑内障の原因遺伝子変異を同定するために独立症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（感覚器センター）を中心に厚生労働省の研究班（次世代シークエンサーを用いたエクソーム配列解析による黄斑ジストロフィーの原因遺伝子と発症機序の解明、2011-2013）として、2011年度に６大学との共同研究によって結成されました。2014年度は継厚生労働省の研究班として継続し、2015年度には日本医療研究開発機構 (AMED)の研究班（遺伝性網脈絡膜疾患の生体試料の収集・管理・提供と病態解明、2014-2016）に移行しました。2017-2019年度はAMED難治性疾患実用化研究事業（オミックス解析による遺伝性網脈絡膜疾患、家族性緑内障、先天性視神経委縮症の病因・病態機序の解明）事業として継続され、３8の大学眼科学教室、眼科病院、研究所によるオールジャパン体制で研究に取り組む体制となりました。

本研究班では遺伝性網脈絡膜疾患（36疾患）、遺伝性視神経委縮症、家族性緑内障などの希少難治性眼疾患を対象に約3,000を超えるDNA検体が収集され、全エクソーム解析（2011-2019)、全ゲノム解析(2020- )が実施されています。これまでの研究から、全エクソーム解析では遺伝性網膜疾患家系の36％しか原因遺伝子変異が同定されず、未解決家系については全ゲノム解析によってその一部が同定されています。これまで多数の新しい新規遺伝子変異や新規遺伝子が発見されており、診断率の向上に貢献しています。

新たに発見された疾患原因遺伝子については、オミックス解析、ゲノム編集疾患動物モデル、さらに患者iPS細胞から分化誘導された網膜細胞を用いて分子レベルでの発症メカニズムを解明し、これらの基礎情報を用いて新規治療法を提案しています。 JEGC jegc JEGC jegc JEGC jegc JEGC jegc JEGC jegc JEGC jegc JEGC jegc JEGC jeg

厚生労働省、厚生科学審議会科学技術部会全ゲノム解析等の推進に関する専門委員会

活動経歴

・2024/5 AMED 難治性疾患実用化研究事業　長鎖全ゲノムシークエンス研究班発足
・2023/4/1 AMED　難治性疾患実用化研究事業
（難病のゲノム医療実現に向けた全ゲノム解析の実施基盤の構築と実践）國土班発足
・2024/3/31 合計約千検体短鎖全ゲノムシークエンス終了
・2020/10 AMED　難治性疾患実用化研究事業
（難病のゲノム医療推進に向けた全ゲノム解析基盤に関する研究開発）國土班発足
・2019/03/01 2,100検体の全エクソーム解析を終了
・2017/03/07 AMED 難治性疾患実用化研究事業
（オミックス解析による遺伝性網脈絡膜疾患、家族性緑内障、先天性視神経委縮症の病因・様態機序の解明）岩田班発足
・2016/11/13 第3回弘前医療技術イノベーションシンポジウム光をもういちど－要介護０社会を目指して
・2016/10/01 （新）症例情報・遺伝情報登録システム運用開始
・2016/03/31 1,300検体の全エクソーム解析を終了
・2015/04/01 AMED　難治性疾患実用化研究事業
（遺伝性網脈絡膜疾患の生体試料の収集・管理・提供と病態解明）岩田班発足
・2014/04/01 厚生労働省　難治性疾患克服研究事業
（遺伝性網脈絡膜疾患の生体試料の収集・管理・提供と病態解明）岩田班発足
・2011/04/01 厚生労働省　難治性疾患克服研究事業
（次世代シークエンサーを用いたエクソーム配列解析による黄斑ジストロフィーの原因遺伝子と発症機序の解明）岩田班発足

プレスリリース

2022年11月11日
日本人における遺伝性網膜疾患の遺伝的特徴

【概要】
国立病院機構東京医療センター臨床研究センター分子細胞生物学研究部の岩田岳部長、須賀晶子主任研究員、東京大学院農学生命科学研究科の吉武和敏助教、そしてJapan Eye Genetics Consortium（JEGC, www.jegc.org）に参加する国内の大学病院や眼科施設の共同研究グループによって、1210遺伝性網膜疾患患者家系の全エクソン配列解析を行い、日本人の患者で多く見られる疾患原因遺伝子と変異を明らかにしました。

【背景】
遺伝性網膜疾患は遺伝子の異常が原因で網膜組織の変性や視細胞の機能低下をきたす病気の総称で、網膜色素変性や黄斑ジストロフィーを含みます。これまでに250以上の原因遺伝子が報告されており、そのいくつかに対しては遺伝子治療が試験的に行われています。一方で、原因遺伝子の解明と大規模な遺伝学的研究は欧米を中心に進められてきたこともあり、これらの研究で多くの患者に見られる原因遺伝子と日本人の患者で多く見られる原因遺伝子には違いがありました。JEGCではこれまでにオカルト黄斑ジストロフィーや網膜色素変性など個別の疾患について遺伝子解析の結果を発表してきましたが、遺伝性網膜疾患として統合した場合にも日本人に特徴的な傾向が見られるのかは検討されていませんでした。

【研究成果】
研究グループは、JEGCの22施設で収集した28の遺伝性網膜疾患からなる1210家系を対象に、全エクソン配列解析を用いて原因遺伝子と変異の同定を行い、これまでの発表も含めて448家系（37%）について原因遺伝子と変異を特定しました。本コホート全体では網膜色素変性の原因遺伝子として知られるEYSが最も多く（82家系）検出され、二番目にRP1が検出されました（30家系）。EYSを原因遺伝子とする患者のなかでは日本人創始者変異として知られる2つの変異（p.S1653Kfs*2、p.Y2935X）と高頻度変異（p.G843E）のどれかを持つ人が88%を占めていました。一方で、RP1を原因遺伝子とする患者の中では黄斑ジストロフィーと診断されたケース（14家系）が最も多く、その86%は日本人の高頻度変異（p.R1933X）とRP1のエクソン４内のAlu配列挿入を複合ヘテロ形式で持っていました。日本人を含む東アジア人は上に挙げた変異をその他の地域の人々に比べて高い頻度で持っており、遺伝的背景が疾患原因遺伝子の頻度の違いに影響していることが示唆されました。

【研究支援】
本研究は以下の研究支援によって行われました。
１）厚生労働省　次世代遺伝子解析装置を用いた難病の原因究明、治療法開発プロジェクト（研究代表：岩田　岳）難病・がん等の疾患分野の医療の実用化研究事業（難病関係研究分野）、次世代シークエンサーを用いたエクソーム配列解析による黄斑ジストロフィーの原因遺伝子と発症機序の解明、平成23年度～平成25年度

２）厚生労働省厚生労働科学研究委託業務　難治性疾患実用化研究事業（研究代表：岩田　岳）、遺伝性網脈絡膜疾患の生体試料の収集・管理・提供と病態解明、平成26年度

３）日本医療研究開発機構（AMED）難治性疾患実用化研究事業（研究代表：岩田　岳）難治性疾患実用化研究事業、遺伝性網脈絡膜疾患の生体試料の収集・管理・提供と病態解明、平成27年～平成28年
４）日本医療研究開発機構（AMED）難治性疾患実用化研究事業（研究代表：岩田　岳）難治性疾患実用化研究事業、オミックス解析による遺伝性網脈絡膜疾患，家族性緑内障，先天性視神経萎縮症の病因・病態機序の解明、平成29年度～令和元年度

【論文情報】　雑誌名：Human Mutation (DOI: 10.1002/humu.24492)

論文タイトル：Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing

著者：須賀　晶子1, 吉武　和敏1,2, 峰松　尚子1, 角田　和繁3, 藤波　芳3, 三宅　養三4, 國吉一樹5, 林　孝彰6, 溝渕　圭6, 上野　真治7,,8, 寺﨑　浩子9, 小南　太郎7, 直井　信久10, 馬渡　剛10, 溝田　淳11, 篠田　啓11,12, 近藤　峰生13, 加藤　久美子13, 石龍　鉄樹14, 中村　誠15, 楠原　仙太郎15, 山本　博之16, 山本　修士16, 望月　清文17, 近藤　寛之18, 松下　五佳18, 亀谷　修平19, 福地　健郎20, 畑瀬　哲尚20,　堀口　正之21, 島田　佳明21, 谷川　篤宏21, 山本　修一22, 三浦　　玄22, 伊藤　奈々22, 村上　晶23, 藤巻　拓郎23,24, 堀田　喜裕25, 田中　公二26, 岩田　岳1* （*責任著者）

1. 国立病院機構東京医療センター臨床研究センター分子細胞生物学研究部
2. 東京大学大学院農学生命科学研究科水圏生物科学専攻水圏生物工学講座
3. 国立病院機構東京医療センター臨床研究センター視覚研究部
4. 神戸市立神戸アイセンター病院
5. 近畿大学医学部眼科学教室
6. 東京慈恵会医科大学眼科学講座
7. 名古屋大学医学部医学科・大学院医学系研究科眼科学・感覚器障害制御学教室
8. 弘前大学医学部眼科学教室
9. 名古屋大学未来社会創造機構モビリティ社会研究所
10. 宮崎大学医学部眼科
11. 帝京大学医学部眼科学講座
12. 埼玉医科大学眼科学教室
13. 三重大学大学院医学系研究科臨床医学系講座眼科学
14. 福島県立医科大学眼科学講座
15. 神戸大学大学院医学研究科外科系講座眼科学分野
16. 医療法人社団仁眼科医院
17. 岐阜大学医学部眼科学教室
18. 産業医科大学眼科学教室
19. 日本医科大学千葉北総病院眼科
20. 新潟大学大学院医歯学総合研究科眼科学分野
21. 藤田医科大学眼科学教室
22. 千葉大学大学院医学研究院眼科学
23. 順天堂大学医学部・大学院医学系研究科眼科学講座
24. こひなた眼科・小児眼科
25. 浜松医科大学眼科学教室
26. 日本大学医学部視覚科学系眼科学分野

対象疾患

指定難病
90：網膜色素変性
301：黄斑ジストロフィー
302：レーベル遺伝性視神経症

上記のいずれでもない疾患
1.　錐体ジストロフィー
2.　錐体‐杆体ジストロフィー
3.　レーバー先天性黒内障
4.　S錐体増強症候群
5.　アッシャー症候群
6.　スターガルト病
7.　オカルト黄斑ジストロフィー（三宅病）
8.　正常眼底な錐体ジストロフィー、錐体‐杆体ジストロフィー
9.　ノースキャロライナ黄斑ジストロフィー
10.　中心窩形成不全
11.　小眼球症
12.　先天性停止性夜盲症
13.　小口病
14.　斑点状網膜症候群
15.　クリスタリン網膜症
16.　コロイデレミア
17.　杆体一色盲
18.　青錐体一色覚
19.　脳回転状脈絡網膜萎縮症
20.　遅視症
21.　若年性網膜分離症
22.　家族性ドルーゼン
23.　家族性加齢黄斑変性
24.　ベスト病
25.　Wntシグナル伝達網膜症
26.　スティックラー症候群
27.　ワーグナー症候群
28.　常染色体優性視神経萎縮
29.　ミトコンドリア網膜症
30.　眼白子症
31.　眼皮膚白皮症
32.　全身の異常を伴う色素欠乏症
33.　網膜色素線条症
34.　網膜芽細胞腫
35.　遺伝性視神経萎縮症
36.　家族性緑内障

研究代表

岩田　岳、国立病院機構東京センター臨床研究開発センター分子細胞生物学研究部　部長　

研究員

須賀　晶子　国立病院機構東京医療センター臨床研究センター主任研究員
潘　　洋　　国立病院機構東京医療センター臨床研究センター主任研究員
吉武　和敏　北里大学　講師
峰松　尚子　国立病院機構東京医療センター臨床研究センター派遣研究員

事務

照山　遊　国立病院機構東京医療センター臨床研究センター　ラボマネージャー

研究分担

トランスクリプトーム解析：林崎　良英　理化学研究所・予防医療・診断技術開発プログラム　プログラムディレクター
プロテオーム解析：西村　俊秀　聖マリアンナ医科大学分子病態情報研究講座　特任教授
霊長類モデル：下澤　律浩　医薬基盤・栄養・健康研究所　霊長類医科学研究センター主任研究員

疾患リーダー

角田　和繁国立病院機構東京医療センター臨床研究センター視覚研究部　部長
藤波　芳　国立病院機構東京センター臨床研究開発センター　室長
近藤　峰生　三重大学大学院医学系研究科臨床医学系講座眼科学　教授
上野　真治　弘前大学医学部眼科学教室　教授
篠田　啓　埼玉医科大学医学部眼科学講座　教授
林　孝彰　東京慈恵会医科大学眼科学講座　教授
國吉　一樹　近畿大学医学部眼科学教室　教授
亀谷　修平　日本医科大学千葉北総病院眼科　教授

研究協力

三宅　養三　愛知医科大学理事長
寺崎　浩子　名古屋大学大学院医学系研究科眼科学・感覚器障害制御学教室　教授
坪田　一男　慶応義塾大学医学部眼科学教室　教授
堀口　正之　藤田保健衛生大学医学部眼科学教室教授
谷川　篤宏　藤田保健衛生大学医学部眼科学教室　准教授
山本　修一　千葉大学大学院医学研究院眼科学(千葉大学医学部附属病院　院長)　教授
久瀬　真奈美　ＪＡ三重厚生連松阪中央総合病院眼科　医師
溝田　淳　帝京大学医学部眼科学講座　教授
中村奈津子　帝京大学医学部眼科学講座　助手
直井　信久　宮崎大学医学部感覚運動医学講座眼科学分野　教授
馬渡　剛　宮崎大学医学部感覚運動医学講座眼科学分野　視能訓練士(院生)
町田　繁樹　獨協医科大学越谷病院　教授
島田　佳明　藤田保健衛生大学坂文種報德會病院　准教授
中村　誠　神戸大学大学院医学研究科外科系講座眼科学分野　教授
不二門　尚　大阪大学大学院医学系研究科医用工学講座感覚機能形成学教室　教授
堀田　喜裕　浜松医科大学眼科学教室　教授
山田　教弘　浜松医科大学眼科学教室埼玉医科大学医学部　眼科学講座　講師
倉田　健太郎　浜松医科大学眼科学教室　大学院生
高橋　政代　理化学研究所　多細胞システム形成研究センタープロジェクトリーダー
前田　亜希子　理化学研究所　多細胞システム形成研究センター　研究員
望月　清文　岐阜大学医学部眼科学教室　准教授
村上　晶　順天堂大学大学院医学研究科眼科学　教授
近藤　寛之　産業医科大学眼科学教室　教授
石田　晋　北海道大学大学院医学研究科眼科学分野　教授
中澤　満　弘前大学医学部眼科学教室　教授
畑瀬　哲尚　新潟大学医学部眼科　助教　
山本　修士　仁眼科医院　院長
山本　博之　仁眼科医院　医師

公的研究費

国立研究開発法人日本医療研究開発機構 (AMED)

2023年度 - 2025年度
難治性疾患実用化研究事業
難病のゲノム医療実現に向けた全ゲノム解析の実施基盤の構築と実践
課題管理番号: 23ek0109617h0002, 24ek0109617h0003
配分総額: 2,520,000,000円
研究開発代表者: 國土典弘 (国立国際医療研究センター)
研究開発分担者: 岩田岳 (国立病院機構東京医療センター)

2020年度 - 2022年度
難治性疾患実用化研究事業
難病のゲノム医療推進に向けた全ゲノム解析基盤に関する研究開発
課題管理番号: 20ek0109493h0001, 21ek0109493h0002, 22ek0109493h0003
配分総額: 2,850,800,000円
研究開発代表者: 國土典弘 (国立国際医療研究センター)
研究開発分担者: 岩田岳 (国立病院機構東京医療センター)

2017年度 - 2019年度
難治性疾患実用化研究事業
オミックス解析による遺伝性網脈絡膜疾患、家族性緑内障、先天性視神経萎縮症の病因・病態機序の解明
課題管理番号: 17ek0109282s0001, 18ek0109282h0002, 19ek0109282h0003
配分総額: 237,110,000円
研究開発代表者: 岩田岳 (国立病院機構東京医療センター)

2014年度 - 2016年度
難治性疾患実用化研究事業（AMED、厚生労働省）
遺伝性網脈絡膜疾患の生体試料の収集・管理・提供と病態解明
課題管理番号: 15ek0109072h0003, 16ek0109072h0003
研究課題番号: H26-委託-(難)-一般-087
配分総額: 223,890,000円
研究開発代表者: 岩田岳 (国立病院機構東京医療センター)

厚生労働省研究事業

2011年度 - 2013年度
難病・がん等の疾患分野の医療の実用化研究（難病関係研究分野）
次世代シークエンサーを用いたエクソーム配列解析による黄斑ジストロフィーの原因遺伝子と発症機序の解明
研究課題番号：H23-実用化-(難病)-一般-006
配分総額: 241,620,000円
研究代表者：岩田岳（国立病院機構東京医療センター）

論文発表

Suga A, Mizobuchi K, Inooka T, Yoshitake K, Minematsu N, Tsunoka K, Kuniyoshi K, Kawai Y, Omae Y, Tokunaga K, NCBN Controls WGS Consortium, Hayashi T, Ueno S, Iwata T. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD. Genetics in Medicine Open, 2024 March 2(15):101843. DOI:10.1016/j.gimo.2024.101843

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, Kusaka S. Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis.Front Med (Lausanne). 2023 Nov 16;10:1280564. doi: 10.3389/fmed.2023.1280564. eCollection 2023.PMID: 38034549

Matsushita I, Izumi H, Ueno S, Hayashi T, Fujinami K, Tsunoda K, Iwata T, Kiuchi Y, Kondo H. Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia.Genes (Basel). 2023 Jul 21;14(7):1483. doi: 10.3390/genes14071483.PMID: 37510387

Mizumoto K, Kato K, Fujinami K, Sugita T, Sugita I, Hattori A, Saitoh S, Ueno S, Tsunoda K, Iwata T, Kondo M. A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report. Medicine (Baltimore). 2022 Dec 16;101(50):e32161. doi: 10.1097/MD.0000000000032161.PMID: 36550847

Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Genetic characterization of 1,210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing. Hum Mutat. 2022 Oct 25. doi: 10.1002/humu.24492. Online ahead of print.PMID: 36284460

Pan Y, Suga A, Kimura I, Kimura C, Minegishi Y, Nakayama M, Yoshitake K, Iejima D, Minematsu N, Yamamoto M, Mabuchi F, Takamoto M, Shiga Y, Araie M, Kashiwagi K, Aihara M, Nakazawa T, Iwata T. METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma. J Clin Invest. 2022 Sep 13:e153589. doi: 10.1172/JCI153589. Online ahead of print.PMID: 36099048

Iwata T, Japan to Global Eye Genetics Consortium: Extending Research Collaboration for Inherited Eye Diseases. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):360-368. doi: 10.1097/APO.0000000000000535. Epub 2022 Jul 28.PMID: 35904986

Berry V, Fujinami K, Mochizuki K, Iwata T, Pontikos N, Quinlan RA, Michaelides M.　A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. Ophthalmic Genet. 2022 Jun 23:1-5. doi: 10.1080/13816810.2022.2090010. Online ahead of print.PMID: 357362093

Kayazawa T, Kuniyoshi K, Hatsukawa Y, Fujinami K, Yoshitake K, Tsunoda K, Shimojo H, Iwata T, Kusaka S. Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review. Ophthalmic Genet. 2022 Jun;43(3):400-408. doi: 10.1080/13816810.2021.2023195. Epub 2022 Jan 13. PMID: 35026968

Ahn SJ, Yang L, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Nakamura N, Iwata T, Kim MS, Mun Y, Park JY, Joo K, Park KH, Miyake Y, Sui R, Fujinami K, Woo SJ; East Asia Inherited Retinal Disease Society Study Group. Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):12. doi: 10.1167/iovs.63.1.12. PMID: 34994768

Oishi A, Fujinami K, Mawatari G, Naoi N, Ikeda Y, Ueno S, Kuniyoshi K, Hayashi T, Kondo H, Mizota A, Shinoda K, Kusuhara S, Nakamura M, Iwata T, Tsujikawa A, Tsunoda K. Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan. Genes (Basel). 2021 Nov 18;12(11):1817. doi: 10.3390/genes12111817. PMID: 34828423

Mizobuchi K, Hayashi T, Oishi N, Kubota D, Kameya S, Higasa K, Futami T, Kondo H, Hosono K, Kurata K, Hotta Y, Yoshitake K, Iwata T, Matsuura T, Nakano T. Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.J Clin Med. 2021 May 24;10(11):2265. doi: 10.3390/jcm10112265.PMID: 34073704

Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group. Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. Br J Ophthalmol. 2021 Apr 20:bjophthalmol-2020-318544. doi: 10.1136/bjophthalmol-2020-318544.

Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T. A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Doc Ophthalmol. 2021 Feb 21. doi: 10.1007/s10633-021-09826-y. Online ahead of print. PMID: 336117603

Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, 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. Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.Hum Genome Var. 2020 Feb 10;7(1):3. doi: 10.1038/s41439-019-0086-2.PMID: 33558473

Hayashi T, Kameya S, Mizobuchi K, Kubota D, Kikuchi S, Yoshitake K, Mizota A, Murakami A, Iwata T, Nakano T. Share Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.Sci Rep. 2020 Sep 28;10(1):15883. doi: 10.1038/s41598-020-72623-1.PMID: 32985515

Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium Study Group. RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):675-693. doi: 10.1002/ajmg.c.31830. Epub 2020 Sep 1. PMID: 328756844Cite

Liu X, Fujinami K, Kuniyoshi K, Kondo M, Ueno S, Hayashi T, Mochizuki K, Kameya S, Yang L, Fujinami-Yokokawa Y, Arno G, Pontikos N, Sakuramoto H, Kominami T, Terasaki H, Katagiri S, Mizobuchi K, Nakamura N, Yoshitake K, Miyake Y, Li S, Kurihara T, Tsubota K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder.Transl Vis Sci Technol. 2020 May 11;9(6):2. doi: 10.1167/tvst.9.6.2. eCollection 2020 May.PMID: 32821499

Fujinami K, Oishi A, Yang L, Arno G, Pontikos N, Yoshitake K, Fujinami-Yokokawa Y, Liu X, Hayashi T, Katagiri S, Mizobuchi K, Mizota A, Shinoda K, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Iwata T, Tsujikawa A, Tsunoda K; Japan Eye Genetics Consortium study group. Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.Am J Med Genet C Semin Med Genet. 2020 Aug 20:e31826. doi: 10.1002/ajmg.c.31826. Online ahead of print.PMID: 328205933

Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Pontikos N, Liu X, Nakamura N, Kurihara T, Tsubota K, Iwata T, Li H, Zou X, Wu S, Sun Z, Ahn SJ, Kim MS, Mun YS, Park KH, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K; East Asia Inherited Retinal Disease Society study group. Spatial Functional Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.2.Am J Ophthalmol. 2020 Jul 21:S0002-9394(20)30382-2. doi: 10.1016/j.ajo.2020.07.025. Online ahead of print.PMID: 32707201

Hirose A, Katagiri S, Hayashi T, Matsuura T, Nagai N, Fujinami K, Iwata T, Tsunoda K. Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).Doc Ophthalmol. 2020 Jul 9. doi: 10.1007/s10633-020-09782-z. Online ahead of print.PMID: 326480255

Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.Sci Rep. 2020 Jun 12;10(1):9531. doi: 10.1038/s41598-020-65737-z.PMID: 32533067

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.Mizobuchi K, Hayashi T, Yoshitake K, Fujinami K, Tachibana T, Tsunoda K, Iwata T, Nakano T.Mol Genet Genomic Med. 2020 Aug;8(8):e1308. doi: 10.1002/mgg3.1308. Epub 2020 May 22.PMID: 32441891 Free PMC article.

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. RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):53. doi: 10.1167/iovs.61.3.53. PubMed PMID: 32232344.

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. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3. PubMed PMID: 32218477; PubMed Central PMCID: PMC7099090.

Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Takamoto M, Aihara M, Iwata T, Hashimoto K, Sato K, Shiga Y, Nishiguchi KM, Nakazawa T, Akiyama M, Kawase K, Ozaki M, Araie M; Japan Glaucoma Society Omics Group (JGS-OG). Genetic variants associated with the onset and progression of primary open-angle glaucoma. Am J Ophthalmol. 2020 Mar 23. pii: S0002-9394(20)30114-8. doi: 10.1016/j.ajo.2020.03.014. [Epub ahead of print] PubMed PMID: 32217119.

Kuniyoshi K, Hayashi T, Kameya S, Katagiri S, Mizobuchi K, Tachibana T, Kubota D, Sakuramoto H, Tsunoda K, Fujinami K, Yoshitake K, Iwata T, Nakano T, Kusaka S. Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy. Int J Mol Sci. 2020 Feb 16;21(4). pii: E1331. doi: 10.3390/ijms21041331. PubMed PMID: 32079136; PubMed Central PMCID: PMC7072995.

Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, 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. Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. Hum Genome Var. 2020 Feb 10;7:3. doi: 10.1038/s41439-019-0086-2. eCollection 2020. PubMed PMID: 32047640; PubMed Central PMCID: PMC7008114.

Hayashi T, Katagiri S, Mizobuchi K, Yoshitake K, Kameya S, Matsuura T, Iwata T, Nakano T. Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy. Ophthalmic Genet. 2020 Feb 10:1-3. doi: 10.1080/13816810.2020.1723119. [Epub ahead of print] PubMed PMID: 32039647.

Li H, Yuan S, Minegishi Y, Suga A, Yoshitake K, Sheng X, Ye J, Smith S, Bunkoczi G, Yamamoto M, Iwata T. Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy. Hum Mol Genet. 2020 Jan 9. pii: ddz311. doi: 10.1093/hmg/ddz311. [Epub ahead of print] PubMed PMID: 31915829.

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. Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. Sci Rep. 2019 Nov 14;9(1):16851. doi: 10.1038/s41598-019-52660-1. PubMed PMID: 31728034.

Nakamura N, Tsunoda K, Mizuno Y, Usui T, Hatase T, Ueno S, Kuniyoshi K, Hayashi T, Katagiri S, Kondo M, Kameya S, Yoshitake K, Fujinami K, Iwata T, Miyake Y. Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4691-4700. doi: 10.1167/iovs.19-27486. PubMed PMID: 31725168.

Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S. Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family. Ophthalmic Genet. 2019 Nov 7:1-8. doi: 10.1080/13816810.2019.1686159. [Epub ahead of print] PubMed PMID: 31696758.

Maeda-Katahira 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. Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort. Mol Vis. 2019 Oct 5;25:559-573. eCollection 2019. PubMed PMID: 31673222; PubMed Central PMCID: PMC6798706.

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. Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. Hum Genome Var. 2019 Aug 2;6:34. doi: 10.1038/s41439-019-0065-7. eCollection 2019. PubMed PMID: 31645972; PubMed Central PMCID: PMC6804603.

Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3432-3446. doi: 10.1167/iovs.19-26650. PubMed PMID: 31390656.

Tsunoda K, Fujinami K, Yoshitake K, Iwata T. Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. Doc Ophthalmol. 2019 Jul 8. doi: 10.1007/s10633-019-09705-7. [Epub ahead of print] PubMed PMID: 31286363.

Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K, Japan Eye Genetics Consortium OBO. Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques. J Ophthalmol. 2019 Apr 9;2019:1691064. doi: 10.1155/2019/1691064. eCollection 2019. PubMed PMID: 31093368; PubMed Central PMCID: PMC6481010.

Fujinami K, Yang L, Joo K, Tsunoda K, Kameya S, Hanazono G, Fujinami-Yokokawa Y, Arno G, Kondo M, Nakamura N, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Iwata T, Miyake Y, Woo SJ, Sui R; EAIRDs study group. Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.1. Ophthalmology. 2019 Apr 24. pii: S0161-6420(19)30138-1. doi: 10.1016/j.ophtha.2019.04.032. [Epub ahead of print] PubMed PMID: 31028767.

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. Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. Doc Ophthalmol. 2019 Jun;138(3):229-239. doi: 10.1007/s10633-019-09679-6. Epub 2019 Mar 15. PubMed PMID: 30877594.

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. High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia. Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):76-85. doi: 10.3928/23258160-20190129-03. PubMed PMID: 30768214.

Kondo H, Oku K, Katagiri S, Hayashi T, Nakano T, Iwata A, Kuniyoshi K, Kusaka S, Hiyoshi A, Uchio E, Kondo M, Oishi N, Kameya S, Mizota A, Naoi N, Ueno S, Terasaki H, Morimoto T, Iwaki M, Yoshitake K, Iejima D, Fujinami K, Tsunoda K, Shinoda K, Iwata T. Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis. Hum Genome Var. 2019 Jan 8;6:3. doi: 10.1038/s41439-018-0034-6. eCollection 2019. PubMed PMID: 30652005; PubMed Central PMCID: PMC6325138.

Mizobuchi K, Katagiri S, Hayashi T, Yoshitake K, Fujinami K, Kuniyoshi K, Mishima R, Tsunoda K, Iwata T, Nakano T. Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X). Am J Ophthalmol Case Rep. 2018 Dec 19;13:110-115. doi: 10.1016/j.ajoc.2018.12.019. eCollection 2019 Mar. PubMed PMID: 30619975; PubMed Central PMCID: PMC6307093.

Ueno S, Inooka D, Meinert M, Ito Y, Tsunoda K, Fujinami K, Iwata T, Ohde H, Terasaki H. Three cases of acute-onset bilateral photophobia. Jpn J Ophthalmol. 2019 Mar;63(2):172-180. doi: 10.1007/s10384-018-00649-0. Epub 2019 Jan 2. PubMed PMID: 30604114.

Katagiri S, Hayashi T, Yoshitake K, Murai N, Matsui Z, Kubo H, Satoh H, Matsufuji S, Takamura T, Yokoo T, Omori Y, Furukawa T, Iwata T, Nakano T. Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome. Sci Rep. 2018 Nov
13;8(1):16733. doi: 10.1038/s41598-018-35152-6. PubMed PMID: 30425282; PubMed Central PMCID: PMC6233217.

Nakanishi A, Ueno S, Hayashi T, Katagiri S, Ito Y, Kominami T, Fujinami K, Tsunoda K, Iwata T, Terasaki H. CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. Retina. 2018 Oct 9. doi: 10.1097/IAE.0000000000002363. [Epub ahead of print] PubMed PMID: 30308565.

Inagaki S, Kawase K, Funato M, Seki J, Kawase C, Ohuchi K, Kameyama T, Ando S, Sato A, Morozumi W, Nakamura S, Shimazawa M, Iejima D, Iwata T, Yamamoto T, Kaneko H, Hara H. Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2293-2304. doi: 10.1167/iovs.17-22975. PubMed PMID: 29847634.

Kawamura Y, Suga A, Fujimaki T, Yoshitake K, Tsunoda K, Murakami A, Iwata T. LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells. J Hum Genet. 2018 Aug;63(8):893-900. doi: 10.1038/s10038-018-0465-4. Epub 2018 May 14. PubMed PMID:
29760528.

Xu X, Fang Y, Yokoi T, Shinohara K, Hirakata A, Iwata T, Tsunoda K, Jonas JB, Ohno-Matsui K. POSTERIOR STAPHYLOMAS IN EYES WITH RETINITIS PIGMENTOSA WITHOUT HIGH MYOPIA. Retina. 2018 Apr 26. doi: 10.1097/IAE.0000000000002180. [Epub ahead of print] PubMed PMID: 29708934.

Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y. Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018. PubMed PMID: 29681726; PubMed Central PMCID: PMC5893010.

Katagiri S, Hayashi T, Mizobuchi K, Yoshitake K, Iwata T, Nakano T. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly). Ophthalmic Genet. 2018 Jun;39(3):357-365. doi: 10.1080/13816810.2018.1459737. Epub 2018 Apr 9. PubMed PMID: 29630435.

Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. Ophthalmology. 2018 May;125(5):735-746. doi: 10.1016/j.ophtha.2017.11.020. Epub 2018 Jan 6. PubMed PMID: 29310964; PubMed Central PMCID: PMC5917070.

Kominami A, Ueno S, Kominami T, Nakanishi A, Ito Y, Fujinami K, Tsunoda K, Hayashi T, Kikuchi S, Kameya S, Iwata T, Terasaki H. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. Ophthalmic Genet. 2018 Apr;39(2):255-262. doi: 10.1080/13816810.2017.1408846. Epub 2017 Dec PubMed PMID: 29220607.

Kato Y, Hanazono G, Fujinami K, Hatase T, Kawamura Y, Iwata T, Miyake Y, Tsunoda K. Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6020-6029. doi: 10.1167/iovs.17-21969. PubMed PMID: 29196766.

Shinozaki Y, Kashiwagi K, Namekata K, Takeda A, Ohno N, Robaye B, Harada T, Iwata T, Koizumi S. Purinergic dysregulation causes hypertensive glaucoma-like optic neuropathy. JCI Insight. 2017 Oct 5;2(19). pii: 93456. doi: 10.1172/jci.insight.93456. PubMed PMID: 28978804; PubMed Central PMCID: PMC5841869.

Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal
Dystrophy Consortium. Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17. PubMed PMID: 28967191.

Hayashi T, Sasano H, Katagiri S, Tsunoda K, Kameya S, Nakazawa M, Iwata T, Tsuneoka H. Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy. Jpn J Ophthalmol. 2017 Sep;61(5):395-401. doi: 10.1007/s10384-017-0522-0. Epub 2017 Jul 1. PubMed PMID: 28668999.

Ueno S, Nakanishi A, Sayo A, Kominami T, Ito Y, Hayashi T, Tsunoda K, Iwata T, Terasaki H. Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. Doc Ophthalmol. 2017 Apr;134(2):141-147. doi: 10.1007/s10633-017-9577-y. Epub 2017 Feb 14. PubMed PMID: 28197754.

Shim MS, Takihara Y, Kim KY, Iwata T, Yue BY, Inatani M, Weinreb RN, Perkins GA, Ju WK. Corrigendum: Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration. Sci Rep. 2017 Jan 19;7:40460. doi: 10.1038/srep40460. PubMed PMID: 28102236; PubMed Central PMCID: PMC5244623.

Minegishi Y, Nakayama M, Iejima D, Kawase K, Iwata T. Significance of optineurin mutations in glaucoma and other diseases. Prog Retin Eye Res. 2016 Nov;55:149-181. doi: 10.1016/j.preteyeres.2016.08.002. Epub 2016 Sep 29. Review. PubMed PMID: 27693724.

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. Jpn J Ophthalmol. 2016 Nov;60(6):476-485. Epub 2016 Aug 13. PubMed PMID: 27522502.

Akiyama G, Matsumoto CS, Shinoda K, Terauchi G, Matsumoto H, Watanabe E, Iwata T, Mizota A, Miyake Y. Intraoperative electrophysiological evaluations of macular function during peripheral scleral indentation. Sci Rep. 2016 Oct 20;6:35164. doi: 10.1038/srep35164. PubMed PMID: 27762313; PubMed Central PMCID:
PMC5071826.

Ueno S, Nakanishi A, Kominami T, Ito Y, Hayashi T, Yoshitake K, Kawamura Y, Tsunoda K, Iwata T, Terasaki H. In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. Jpn J Ophthalmol. 2016 Oct 7.

Minegishi Y, Nakayama M, Iejima D, Iwata T. Significance of Optineurin Mutations in Glaucoma and Other Diseases. Prog Ret Eye Res 2016 Sep 29. pii: S1350-9462(16)30061-1.

Shim MS, Takihara Y, Kim K-Y, Iwata T, Yue BYJT, Inatani M, Weinreb RN, Perkins GA, and Ju W-K. Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration. Sci Rep 2016 in press

Minegishi Y, Sheng X, Yoshitake K, Sergeev Y, Iejima D, Shibagaki Y, Monma N, Ikeo K, Furuno M, Zhuang W, Liu Y, Rong W, Hattori A, Iwata T. CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. Sci Rep 2016 in press

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. Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2016;57:4837-46

Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T. Identification of novel mutations in the LRR-cap domain of C21orf2 in Japanese patients with retinitis pigmentosa and cone-rod dystrophy. Invest Ophthalmol Vis Sci 2016;57:4255-4263

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. Jpn J Ophthalmol. 2016 Aug 13. [Epub ahead of print]

Yagura K, Shinoda K, Matsumoto S, Terauchi G, Kawashima M, Watanabe E, Matsumoto H, Iwata T, Mizota A, Miyake Y. Electroretinographic evaluations of retinal function before, just after, and after intravitreal injections. Sci Rep 2016 Aug 5;6:31104. doi: 10.1038/srep31104.

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. Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort. Am J Ophthalmol. 2016;S0002-9394:30198-2

Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Gerogiou G, Riazuddin SA, Ayyagari R. A missense mutation in the ASRGL1 gene is involved in causing autosomal recessive retinal degeneration. Hum Mol Genet. 2016

Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y. Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. Jpn J Ophthalmol. 2016;60:187-97

Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T. RPE65 mutations in two Japanese families with Leber congenital amaurosis. Ophthalmic Genetics 2016;37:161-169

Nakanishi A, Ueno S, Kawano K, Ito Y, Kominami T, Yasuda S, Kondo M, Tsunoda K, Iwata T, Terasaki H. Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2015;56:7243-9

Katagiri S, Hayashi T, Ohkuma Y, Sekiryu T, Takeuchi T, Gekka T, Kondo M, Iwata T, Tsuneoka H. Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy. Br J Ophthalmol. 2015;99:1577-82

Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T. Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). Ophthalmic Genet. 2015;36:137-44

Kato Y, Tsunoda K, Fujinami K, Iwata T, Saga M, Oguchi Y. Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease. Invest Ophthalmol Vis Sci. 2015;56:2162-72

Kuniyoshi K, Sakuramoto H, Yoshitake K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations. Doc Ophthalmol. 2015;131:71-9

Kuniyoshi K, Ikeo K, Sakuramoto H, Furuno M, Yoshitake K, Hatsukawa Y, Nakao A, Kusaka S, Shimomura Y, Iwata T. Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy Documenta Ophthalmologica. Documenta Ophthalmologica 2015;130:49-55

Katagiri S, Hayashi T, Akahori M, Itabashi T, Nishino J, Yoshitake K, Furuno M, Ikeo K, Okada T, Tsuneoka H and Iwata T. RHO mutations (p.W126L and p.A346P) in two Japanese families with autosomal dominant retinitis pigmentosa. Journal of Ophthalmology 2014;2014:210947. doi: 10.1155/2014/210947

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. Whole exome analysis identifies frequent CNGA1mutations in Japanese population with autosomal recessive retinitis pigmentosa. PLoS One 2014;9(9):e108721

Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T. Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. Ophthalmic Genetics 2014;12:1-8

Tanito M, Hara K, Akahori M, Harata A, Itabashi T, Takai Y, Kaidzu S, Ohira A, Iwata T. Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits. Acta Ophthalmologica 2014; Aug 12

Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/severe early childhood onset retinal dystrophy with RDH12 mutation. Documenta Ophthalmologica 2014;128:219-228

Katagiri S, Akahori M, Hayashi T, Yoshitake K, Gekka T, Ideo K, Tsuneoka H, Iwata T. Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene. Documenta Ophthalmologica 2014;128:211-2117

Katagiri S, Yoshitake K, Akahori M, Hayashi T, Furuno M, Nishino J, Ikeo K, Tsuneoka H, Iwata T. Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alstrom Syndrome. Molecular Vision 2013;19:2393-406

Sakuramoto H, Kuniyoshi K, Tsunoda K, Akahori M, Iwata T, Shimomura Y. Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration. Journal of Clinical Ophthalmology. 2013;7:1703-11

Nakamura N, Tsunoda K, Fujinami K, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Iwata T, Miyake Y. [Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram]. Nihon Ganka Gakkai Zasshi. 2013;117:629-40

Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Itabashi T, Iwata T, Ozawa Y, Tsubota K, Miyake Y. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. Molecular Vision 2013;19:1580-90

Minegishi Y, Iejima D, Kobayashi H, Chi Z-L, Kawase K, Yamamoto T, Seki T, Yuasa S, Fukuda K, Iwata T. Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma. Human Molecular Genetics 2013;22:3559-67

Chen CJ, Scholl HP, Birch DG, Iwata T. Miller NR, Goldberg MF. Characterizing the phenotype and genotype of a family with occult macular dystrophy. JAMA Ophthalmology 2012;130:1554-9

Kabuto T, Takahashi H, Goto-Fukuura Y, Igarashi T, Akahori M, Kameya S, Iwata T, Mizota A, Yamaki K, Miyake Y, Takahashi H. A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. Molecular Vision 2012;18:1031-9

Tsunoda K, Usui T, Hatase T, Yamai S, Fujinami K, Hanazono G, Shinoda K, Ohde H, Akahori M, Iwata T, Miyake Y. Clinical characteristics of occult macular dystrophy in a large family with mutation of RP1L1 gene. Retina 2012;32:1135-47

Hara K, Akahori M, Tanito M, Kaidzu S, Ohira A, Iwata T. Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion. Molecular Vision 2011;17:3309-13

Fujinami K, Akahori M, Fukui M, Tsunoda K, Iwata T, Miyake Y. Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene. Acta Ophthalmologica 2011;89(3):e297-8. doi: 10.1111/j.1755-3768.2009.01848.x

About JEGC

Japan Eye Genetics Consortium (JEGC) was established in 2011 to identify genes responsible for 37 inherited retinal diseases (IRD) in Japanese population. More than 2,700 DNA samples has now been collected from 38 Ophthalmology Departments in Japan for whole genome/whole exome analysis. Our study shows that approximately 70% of families with IRD carry novel gene mutations. To date, number of novel genes has been identified and expected for more in the future. This high prevalance of novel gene mutations in Japanese population is a challenge to the consortium for accurate diagnostic. Functional studies for novel disease-causing proteins are being performed to understand the molecular mechanism of disease onset and to apply these information for development of future therapeutics.

Target Inherited Eye Diseases

Leber Congenital Amaurosis
Retinitis Pigmentosa
Enhanced S-Cone Syndrome
Usher Syndrome
Stargardt Disease (STGD)
Macular Dystrophy (non STGD) or Cone (Cone-rod) Dystrophy
Occult Macular Dystrophy (including Miyake's Disease)
Cone (Cone-rod) Dystrophy with normal fundus appearance
North Carolina Macular Dystrophy
Foveal Hypoplasia
Microphthalmus/Nanophthalmus
Congenital Stationary Night Blindness (CSNB)
Oguchi's Disease
Flecked Retina Syndrome
Bietti Crystalline Corneoretinal Dystrophy
Choroideremia
Achromatopsia
Blue Cone Monochromatism
Gyrate Atrophy
Bradyopsia
Retinioschisis
Familial drusen
Familial AMD
Bestrophinopaty
Wnt signaling retinopathy
Stickler syndrome
Wagner Syndrome
Dominant Optic Atrophy (DOA)
Mitochondrial Retinopathy
Leber's Hereditary Optic Neuropathy (LHON)
Ocular Albinism
Oculocutaneous Albinism
Albinism with systemic abnormalities
Angioid Streaks
Retinoblastoma
Inherited Optic Neuropathy
Inherited Glaucoma

History

May 2024: 2,000 samples of WGS completed

June 2023: 1,000 samples of WGS completed

October 2021: 150 pedigree WGS completed

December 2020: Whole genome sequencing (WGS) for IRD starts

October 28, 2020: Genomics Japan kickoff meeting in Tokyo

December 2019: Genomics Japan was approved by Japanese Ministry of Health, Labour and Welfare

March 2019: 2,100 samples of whole exome analysis completed. Mutation detection rate increased to 53%

April 2017: JEGC 3rd phase, Resaerch on Rare and Intractable Diseases Program of Japan, AMED

October 2016: New JEGC Genotype-Phenotype Database in operation

March 2016: 1,300 samples of whole exome analysis completed

April 2015: JEGC 2nd phase, Research on Rare and Intractable Diseases Program of Japan, AMED

April 2014: JEGC 2nd phase, Research on Rare and Intractable Diseases Program of Japan, Japanese Ministry of Health, Labour and Welfare

March 2013: 500 samples of whole exome analysis completed

March 2012: 50 samples of whole exome analysis completed

April 2011: JEGC 1st phase, Research for Practical Application of Medical Treatment in the Field of Intractable Diseases and Cancer Diseases Program of Japan, Japanese Ministry of Health, Labour and Welfare. Mutation detection rate at 17%

RIKEN

CAGE Project

Hideya Kawaji
RIKEN

CAGE Project

Carninci Piero

RIKEN

Proteome Project

Toshihide Nishimura

St. Marianna University

Animal Model Project

Nobuhiro Shimozawa

Tsukuba Primate Reserach Center

Collaborators

Yozo Miyake, Kobe Eye Center
Masayuki Horiguchi, Fujita Health University
Syuichi Yamamoto, Chiba University Hospital
Manami Kuze, Matsusaka Central General Hospital
Atsushi Mizota, Teikyo University School of Medicine
Nobuhisa Naoi, Miyazaki University
Shigeki Machida, Dokkyo Medical University, Koshigaya Hospital
Yoshiaki Shimada, Fujita Health University, Banbuntane Hotokukai Hospital
Hisashi Fujikado, Osaka University Graduate School of Medicine Faculty of Medicine, Osaka University
Yoshihiro Hotta Hamamatsu University School of Medicine Professor
Masayo Takahashi, RIKEN Kobe, Retina Regenerative Medicine Research and Development Projects
Kiyofumi Motiduki, Opthalmology, Gifu University School of Medicine
Akira Murakami, Department of Ophthalmology, Juntendo University
Susumu Ishida, Department of Ophthalmology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University
Mitsuru Nakazawa, Depertment of Ophthalmology, Hirosaki Univeristy
Teruhisa Hatase, Division of Ophthalmology and Visual Science, Graduate School of Medical and Dental Sciences, Niigata University
Kazuo Tsubota, Keio University
Akiko Maeda, RIKEN Kobe, Retina Regenerative Medicine Research and Development Projects
Atsuhiro Tanigawa, Fujita Health University
Syuji Yamamoto, Jin Ophthalmic Clinic
Hiroyuki Yamamoto, Jin Ophthalmic Clinic
Tetsuju Sekiryu, Fukushima Medical University
Kenji Kashiwagi, Department of Ophthalmology, University of Yamanashi
Takeo Fukuchi, Niigata University
Atsuhshi Hayashi, Department of Ophthalmology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama
Katsuhiro Hosono, Hamamatsu University School of Mediciner
Keisuke Mori, International University of Health and Welfare
Koichi Furuya, Division of Ophthalmology, Department of Visual Science, Nihon University School of Medicine
Keiichiro Suzuki, International University of Health and Welfare
Yasuo Yanagi, Department of Ophthalmology, Asahikawa Medical University
Natsuko Nakamura, Department of Ophthalmology, The University of Tokyo

Government Funding

Japan Agency for Medical Reserach and Development (AMED)

Program Name: Research for Rare and Intractable Diseases
Grant Number: 22ek0109493h0003
Principal Investigator: Norihiro Kokudo (National Center for Global Health and Medicine)
Co-Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Study of whole genome sequencing for promotion of genomic medicine for rare diseases
Year: 2022

Program Name: Research for Rare and Intractable Diseases
Grant Number: 21ek0109493h0002
Principal Investigator: Norihiro Kokudo (National Center for Global Health and Medicine)
Co-Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Study of whole genome sequencing for promotion of genomic medicine for rare diseases
Year: 2021

Program Name: Research for Rare and Intractable Diseases
Grant Number: 20ek0109493h0001
Principal Investigator: Norihiro Kokudo (National Center for Global Health and Medicine)
Co-Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Study of whole genome sequencing for promotion of genomic medicine for rare diseases
Year: 2020

Program Name: Research for Rare and Intractable Diseases
Grant Number: 19ek0109282h0003
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Omics analysis to identify disease-causing mutation and molecular mechanism of inherited retinal diseases, inherited glaucoma and inherited optic neuropathy
Year: 2019

Program Name: Research for Rare and Intractable Diseases
Grant Number: 18ek0109282h0002
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Omics analysis to identify disease-causing mutation and molecular mechanism of inherited retinal diseases, inherited glaucoma and inherited optic neuropathy
Year: 2018

Program Name: Research for Rare and Intractable Diseases
Grant Number: 17ek0109282s0001
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Omics analysis to identify disease-causing mutation and molecular mechanism of inherited retinal diseases, inherited glaucoma and inherited optic neuropathy
Year: 2017

Program Name: Research for Rare and Intractable Diseases
Grant Number: 16ek0109072h0003
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Collection, management and provision of biological samples for hereditary reticulochoroidal disease and elucidation of pathology
Year: 2016

Program Name: Research for Rare and Intractable Diseases
Grant Number: 15ek0109072h0003
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Collection, management and provision of biological samples for hereditary reticulochoroidal disease and elucidation of pathology
Year: 2015

Japanese Ministry of Health, Labour and Welfare

Program Name: Research for Rare and Intractable Diseases
Grant Number: H26-Itaku(Nann)-Ippann-087
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Collection, management and provision of biological samples for hereditary reticulochoroidal disease and elucidation of pathology
Year: 2014

Program Name: Research for Practical Application of Medical Treatment in the Field of Intractable Diseases and Cancer Diseases
Grant Number: H23-Jitsuyouka(Nannbyo)-Ippan-006
Principal Investigator: Takeshi Iwata (National Hosptial Organization Tokyo Medical Center)
Project Name: Exome sequence analysis using a next-generation sequencer
Elucidation of the causative gene and pathogenic mechanism of macular dystrophy
Year: 2011 - 2013

Publication

Suga A, Mizobuchi K, Inooka T, Yoshitake K, Minematsu N, Tsunoka K, Kuniyoshi K, Kawai Y, Omae Y, Tokunaga K, NCBN Controls WGS Consortium, Hayashi T, Ueno S, Iwata T. A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD. Genetics in Medicine Open, 2024 March 2(15):101843. DOI:10.1016/j.gimo.2024.101843

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, Kusaka S. Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis.Front Med (Lausanne). 2023 Nov 16;10:1280564. doi: 10.3389/fmed.2023.1280564. eCollection 2023.PMID: 38034549

Matsushita I, Izumi H, Ueno S, Hayashi T, Fujinami K, Tsunoda K, Iwata T, Kiuchi Y, Kondo H. Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia.Genes (Basel). 2023 Jul 21;14(7):1483. doi: 10.3390/genes14071483.PMID: 37510387

Mizumoto K, Kato K, Fujinami K, Sugita T, Sugita I, Hattori A, Saitoh S, Ueno S, Tsunoda K, Iwata T, Kondo M. A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report. Medicine (Baltimore). 2022 Dec 16;101(50):e32161. doi: 10.1097/MD.0000000000032161.PMID: 36550847

Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Genetic characterization of 1,210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing. Hum Mutat. 2022 Oct 25. doi: 10.1002/humu.24492. Online ahead of print.PMID: 36284460

Pan Y, Suga A, Kimura I, Kimura C, Minegishi Y, Nakayama M, Yoshitake K, Iejima D, Minematsu N, Yamamoto M, Mabuchi F, Takamoto M, Shiga Y, Araie M, Kashiwagi K, Aihara M, Nakazawa T, Iwata T. METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma. J Clin Invest. 2022 Sep 13:e153589. doi: 10.1172/JCI153589. Online ahead of print.PMID: 36099048

Iwata T, Japan to Global Eye Genetics Consortium: Extending Research Collaboration for Inherited Eye Diseases. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):360-368. doi: 10.1097/APO.0000000000000535. Epub 2022 Jul 28.PMID: 35904986

Berry V, Fujinami K, Mochizuki K, Iwata T, Pontikos N, Quinlan RA, Michaelides M.　A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. Ophthalmic Genet. 2022 Jun 23:1-5. doi: 10.1080/13816810.2022.2090010. Online ahead of print.PMID: 357362093

Kayazawa T, Kuniyoshi K, Hatsukawa Y, Fujinami K, Yoshitake K, Tsunoda K, Shimojo H, Iwata T, Kusaka S. Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review. Ophthalmic Genet. 2022 Jun;43(3):400-408. doi: 10.1080/13816810.2021.2023195. Epub 2022 Jan 13. PMID: 35026968

Ahn SJ, Yang L, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Nakamura N, Iwata T, Kim MS, Mun Y, Park JY, Joo K, Park KH, Miyake Y, Sui R, Fujinami K, Woo SJ; East Asia Inherited Retinal Disease Society Study Group. Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):12. doi: 10.1167/iovs.63.1.12. PMID: 34994768

Oishi A, Fujinami K, Mawatari G, Naoi N, Ikeda Y, Ueno S, Kuniyoshi K, Hayashi T, Kondo H, Mizota A, Shinoda K, Kusuhara S, Nakamura M, Iwata T, Tsujikawa A, Tsunoda K. Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan. Genes (Basel). 2021 Nov 18;12(11):1817. doi: 10.3390/genes12111817. PMID: 34828423

Mizobuchi K, Hayashi T, Oishi N, Kubota D, Kameya S, Higasa K, Futami T, Kondo H, Hosono K, Kurata K, Hotta Y, Yoshitake K, Iwata T, Matsuura T, Nakano T. Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.J Clin Med. 2021 May 24;10(11):2265. doi: 10.3390/jcm10112265.PMID: 34073704

Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group. Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. Br J Ophthalmol. 2021 Apr 20:bjophthalmol-2020-318544. doi: 10.1136/bjophthalmol-2020-318544.

Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T. A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Doc Ophthalmol. 2021 Feb 21. doi: 10.1007/s10633-021-09826-y. Online ahead of print. PMID: 336117603

Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, 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. Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.Hum Genome Var. 2020 Feb 10;7(1):3. doi: 10.1038/s41439-019-0086-2.PMID: 33558473

Hayashi T, Kameya S, Mizobuchi K, Kubota D, Kikuchi S, Yoshitake K, Mizota A, Murakami A, Iwata T, Nakano T. Share Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.Sci Rep. 2020 Sep 28;10(1):15883. doi: 10.1038/s41598-020-72623-1.PMID: 32985515

Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium Study Group. RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):675-693. doi: 10.1002/ajmg.c.31830. Epub 2020 Sep 1. PMID: 328756844Cite

Liu X, Fujinami K, Kuniyoshi K, Kondo M, Ueno S, Hayashi T, Mochizuki K, Kameya S, Yang L, Fujinami-Yokokawa Y, Arno G, Pontikos N, Sakuramoto H, Kominami T, Terasaki H, Katagiri S, Mizobuchi K, Nakamura N, Yoshitake K, Miyake Y, Li S, Kurihara T, Tsubota K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder.Transl Vis Sci Technol. 2020 May 11;9(6):2. doi: 10.1167/tvst.9.6.2. eCollection 2020 May.PMID: 32821499

Fujinami K, Oishi A, Yang L, Arno G, Pontikos N, Yoshitake K, Fujinami-Yokokawa Y, Liu X, Hayashi T, Katagiri S, Mizobuchi K, Mizota A, Shinoda K, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Iwata T, Tsujikawa A, Tsunoda K; Japan Eye Genetics Consortium study group. Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.Am J Med Genet C Semin Med Genet. 2020 Aug 20:e31826. doi: 10.1002/ajmg.c.31826. Online ahead of print.PMID: 328205933

Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Pontikos N, Liu X, Nakamura N, Kurihara T, Tsubota K, Iwata T, Li H, Zou X, Wu S, Sun Z, Ahn SJ, Kim MS, Mun YS, Park KH, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K; East Asia Inherited Retinal Disease Society study group. Spatial Functional Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.2.Am J Ophthalmol. 2020 Jul 21:S0002-9394(20)30382-2. doi: 10.1016/j.ajo.2020.07.025. Online ahead of print.PMID: 32707201

Hirose A, Katagiri S, Hayashi T, Matsuura T, Nagai N, Fujinami K, Iwata T, Tsunoda K. Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).Doc Ophthalmol. 2020 Jul 9. doi: 10.1007/s10633-020-09782-z. Online ahead of print.PMID: 326480255

Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.Sci Rep. 2020 Jun 12;10(1):9531. doi: 10.1038/s41598-020-65737-z.PMID: 32533067

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.Mizobuchi K, Hayashi T, Yoshitake K, Fujinami K, Tachibana T, Tsunoda K, Iwata T, Nakano T.Mol Genet Genomic Med. 2020 Aug;8(8):e1308. doi: 10.1002/mgg3.1308. Epub 2020 May 22.PMID: 32441891 Free PMC article.

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. RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort. Invest Ophthalmol Vis Sci. 2020 Mar 9;61(3):53. doi: 10.1167/iovs.61.3.53. PubMed PMID: 32232344.

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. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3. PubMed PMID: 32218477; PubMed Central PMCID: PMC7099090.

Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Takamoto M, Aihara M, Iwata T, Hashimoto K, Sato K, Shiga Y, Nishiguchi KM, Nakazawa T, Akiyama M, Kawase K, Ozaki M, Araie M; Japan Glaucoma Society Omics Group (JGS-OG). Genetic variants associated with the onset and progression of primary open-angle glaucoma. Am J Ophthalmol. 2020 Mar 23. pii: S0002-9394(20)30114-8. doi: 10.1016/j.ajo.2020.03.014. [Epub ahead of print] PubMed PMID: 32217119.

Kuniyoshi K, Hayashi T, Kameya S, Katagiri S, Mizobuchi K, Tachibana T, Kubota D, Sakuramoto H, Tsunoda K, Fujinami K, Yoshitake K, Iwata T, Nakano T, Kusaka S. Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy. Int J Mol Sci. 2020 Feb 16;21(4). pii: E1331. doi: 10.3390/ijms21041331. PubMed PMID: 32079136; PubMed Central PMCID: PMC7072995.

Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, 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. Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. Hum Genome Var. 2020 Feb 10;7:3. doi: 10.1038/s41439-019-0086-2. eCollection 2020. PubMed PMID: 32047640; PubMed Central PMCID: PMC7008114.

Hayashi T, Katagiri S, Mizobuchi K, Yoshitake K, Kameya S, Matsuura T, Iwata T, Nakano T. Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy. Ophthalmic Genet. 2020 Feb 10:1-3. doi: 10.1080/13816810.2020.1723119. [Epub ahead of print] PubMed PMID: 32039647.

Li H, Yuan S, Minegishi Y, Suga A, Yoshitake K, Sheng X, Ye J, Smith S, Bunkoczi G, Yamamoto M, Iwata T. Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy. Hum Mol Genet. 2020 Jan 9. pii: ddz311. doi: 10.1093/hmg/ddz311. [Epub ahead of print] PubMed PMID: 31915829.

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. Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. Sci Rep. 2019 Nov 14;9(1):16851. doi: 10.1038/s41598-019-52660-1. PubMed PMID: 31728034.

Nakamura N, Tsunoda K, Mizuno Y, Usui T, Hatase T, Ueno S, Kuniyoshi K, Hayashi T, Katagiri S, Kondo M, Kameya S, Yoshitake K, Fujinami K, Iwata T, Miyake Y. Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings. Invest Ophthalmol Vis Sci. 2019 Nov 1;60(14):4691-4700. doi: 10.1167/iovs.19-27486. PubMed PMID: 31725168.

Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S. Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family. Ophthalmic Genet. 2019 Nov 7:1-8. doi: 10.1080/13816810.2019.1686159. [Epub ahead of print] PubMed PMID: 31696758.

Maeda-Katahira 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. Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort. Mol Vis. 2019 Oct 5;25:559-573. eCollection 2019. PubMed PMID: 31673222; PubMed Central PMCID: PMC6798706.

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. Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. Hum Genome Var. 2019 Aug 2;6:34. doi: 10.1038/s41439-019-0065-7. eCollection 2019. PubMed PMID: 31645972; PubMed Central PMCID: PMC6804603.

Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3432-3446. doi: 10.1167/iovs.19-26650. PubMed PMID: 31390656.

Tsunoda K, Fujinami K, Yoshitake K, Iwata T. Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. Doc Ophthalmol. 2019 Jul 8. doi: 10.1007/s10633-019-09705-7. [Epub ahead of print] PubMed PMID: 31286363.

Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K, Japan Eye Genetics Consortium OBO. Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques. J Ophthalmol. 2019 Apr 9;2019:1691064. doi: 10.1155/2019/1691064. eCollection 2019. PubMed PMID: 31093368; PubMed Central PMCID: PMC6481010.

Fujinami K, Yang L, Joo K, Tsunoda K, Kameya S, Hanazono G, Fujinami-Yokokawa Y, Arno G, Kondo M, Nakamura N, Kurihara T, Tsubota K, Zou X, Li H, Park KH, Iwata T, Miyake Y, Woo SJ, Sui R; EAIRDs study group. Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.1. Ophthalmology. 2019 Apr 24. pii: S0161-6420(19)30138-1. doi: 10.1016/j.ophtha.2019.04.032. [Epub ahead of print] PubMed PMID: 31028767.

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. Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. Doc Ophthalmol. 2019 Jun;138(3):229-239. doi: 10.1007/s10633-019-09679-6. Epub 2019 Mar 15. PubMed PMID: 30877594.

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. High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia. Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):76-85. doi: 10.3928/23258160-20190129-03. PubMed PMID: 30768214.

Kondo H, Oku K, Katagiri S, Hayashi T, Nakano T, Iwata A, Kuniyoshi K, Kusaka S, Hiyoshi A, Uchio E, Kondo M, Oishi N, Kameya S, Mizota A, Naoi N, Ueno S, Terasaki H, Morimoto T, Iwaki M, Yoshitake K, Iejima D, Fujinami K, Tsunoda K, Shinoda K, Iwata T. Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis. Hum Genome Var. 2019 Jan 8;6:3. doi: 10.1038/s41439-018-0034-6. eCollection 2019. PubMed PMID: 30652005; PubMed Central PMCID: PMC6325138.

Mizobuchi K, Katagiri S, Hayashi T, Yoshitake K, Fujinami K, Kuniyoshi K, Mishima R, Tsunoda K, Iwata T, Nakano T. Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X). Am J Ophthalmol Case Rep. 2018 Dec 19;13:110-115. doi: 10.1016/j.ajoc.2018.12.019. eCollection 2019 Mar. PubMed PMID: 30619975; PubMed Central PMCID: PMC6307093.

Ueno S, Inooka D, Meinert M, Ito Y, Tsunoda K, Fujinami K, Iwata T, Ohde H, Terasaki H. Three cases of acute-onset bilateral photophobia. Jpn J Ophthalmol. 2019 Mar;63(2):172-180. doi: 10.1007/s10384-018-00649-0. Epub 2019 Jan 2. PubMed PMID: 30604114.

Katagiri S, Hayashi T, Yoshitake K, Murai N, Matsui Z, Kubo H, Satoh H, Matsufuji S, Takamura T, Yokoo T, Omori Y, Furukawa T, Iwata T, Nakano T. Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome. Sci Rep. 2018 Nov
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Nakanishi A, Ueno S, Hayashi T, Katagiri S, Ito Y, Kominami T, Fujinami K, Tsunoda K, Iwata T, Terasaki H. CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. Retina. 2018 Oct 9. doi: 10.1097/IAE.0000000000002363. [Epub ahead of print] PubMed PMID: 30308565.

Inagaki S, Kawase K, Funato M, Seki J, Kawase C, Ohuchi K, Kameyama T, Ando S, Sato A, Morozumi W, Nakamura S, Shimazawa M, Iejima D, Iwata T, Yamamoto T, Kaneko H, Hara H. Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2293-2304. doi: 10.1167/iovs.17-22975. PubMed PMID: 29847634.

Kawamura Y, Suga A, Fujimaki T, Yoshitake K, Tsunoda K, Murakami A, Iwata T. LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells. J Hum Genet. 2018 Aug;63(8):893-900. doi: 10.1038/s10038-018-0465-4. Epub 2018 May 14. PubMed PMID:
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Xu X, Fang Y, Yokoi T, Shinohara K, Hirakata A, Iwata T, Tsunoda K, Jonas JB, Ohno-Matsui K. POSTERIOR STAPHYLOMAS IN EYES WITH RETINITIS PIGMENTOSA WITHOUT HIGH MYOPIA. Retina. 2018 Apr 26. doi: 10.1097/IAE.0000000000002180. [Epub ahead of print] PubMed PMID: 29708934.

Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y. Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018. PubMed PMID: 29681726; PubMed Central PMCID: PMC5893010.

Katagiri S, Hayashi T, Mizobuchi K, Yoshitake K, Iwata T, Nakano T. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly). Ophthalmic Genet. 2018 Jun;39(3):357-365. doi: 10.1080/13816810.2018.1459737. Epub 2018 Apr 9. PubMed PMID: 29630435.

Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. Ophthalmology. 2018 May;125(5):735-746. doi: 10.1016/j.ophtha.2017.11.020. Epub 2018 Jan 6. PubMed PMID: 29310964; PubMed Central PMCID: PMC5917070.

Kominami A, Ueno S, Kominami T, Nakanishi A, Ito Y, Fujinami K, Tsunoda K, Hayashi T, Kikuchi S, Kameya S, Iwata T, Terasaki H. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. Ophthalmic Genet. 2018 Apr;39(2):255-262. doi: 10.1080/13816810.2017.1408846. Epub 2017 Dec PubMed PMID: 29220607.

Kato Y, Hanazono G, Fujinami K, Hatase T, Kawamura Y, Iwata T, Miyake Y, Tsunoda K. Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6020-6029. doi: 10.1167/iovs.17-21969. PubMed PMID: 29196766.

Shinozaki Y, Kashiwagi K, Namekata K, Takeda A, Ohno N, Robaye B, Harada T, Iwata T, Koizumi S. Purinergic dysregulation causes hypertensive glaucoma-like optic neuropathy. JCI Insight. 2017 Oct 5;2(19). pii: 93456. doi: 10.1172/jci.insight.93456. PubMed PMID: 28978804; PubMed Central PMCID: PMC5841869.

Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal
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Hayashi T, Sasano H, Katagiri S, Tsunoda K, Kameya S, Nakazawa M, Iwata T, Tsuneoka H. Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy. Jpn J Ophthalmol. 2017 Sep;61(5):395-401. doi: 10.1007/s10384-017-0522-0. Epub 2017 Jul 1. PubMed PMID: 28668999.

Ueno S, Nakanishi A, Sayo A, Kominami T, Ito Y, Hayashi T, Tsunoda K, Iwata T, Terasaki H. Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. Doc Ophthalmol. 2017 Apr;134(2):141-147. doi: 10.1007/s10633-017-9577-y. Epub 2017 Feb 14. PubMed PMID: 28197754.

Shim MS, Takihara Y, Kim KY, Iwata T, Yue BY, Inatani M, Weinreb RN, Perkins GA, Ju WK. Corrigendum: Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration. Sci Rep. 2017 Jan 19;7:40460. doi: 10.1038/srep40460. PubMed PMID: 28102236; PubMed Central PMCID: PMC5244623.

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Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. Jpn J Ophthalmol. 2016 Nov;60(6):476-485. Epub 2016 Aug 13. PubMed PMID: 27522502.

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Shim MS, Takihara Y, Kim K-Y, Iwata T, Yue BYJT, Inatani M, Weinreb RN, Perkins GA, and Ju W-K. Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration. Sci Rep 2016 in press

Minegishi Y, Sheng X, Yoshitake K, Sergeev Y, Iejima D, Shibagaki Y, Monma N, Ikeo K, Furuno M, Zhuang W, Liu Y, Rong W, Hattori A, Iwata T. CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. Sci Rep 2016 in press

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Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T. Identification of novel mutations in the LRR-cap domain of C21orf2 in Japanese patients with retinitis pigmentosa and cone-rod dystrophy. Invest Ophthalmol Vis Sci 2016;57:4255-4263

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. Jpn J Ophthalmol. 2016 Aug 13. [Epub ahead of print]

Yagura K, Shinoda K, Matsumoto S, Terauchi G, Kawashima M, Watanabe E, Matsumoto H, Iwata T, Mizota A, Miyake Y. Electroretinographic evaluations of retinal function before, just after, and after intravitreal injections. Sci Rep 2016 Aug 5;6:31104. doi: 10.1038/srep31104.

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. Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort. Am J Ophthalmol. 2016;S0002-9394:30198-2

Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Gerogiou G, Riazuddin SA, Ayyagari R. A missense mutation in the ASRGL1 gene is involved in causing autosomal recessive retinal degeneration. Hum Mol Genet. 2016

Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y. Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. Jpn J Ophthalmol. 2016;60:187-97

Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T. RPE65 mutations in two Japanese families with Leber congenital amaurosis. Ophthalmic Genetics 2016;37:161-169

Nakanishi A, Ueno S, Kawano K, Ito Y, Kominami T, Yasuda S, Kondo M, Tsunoda K, Iwata T, Terasaki H. Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2015;56:7243-9

Katagiri S, Hayashi T, Ohkuma Y, Sekiryu T, Takeuchi T, Gekka T, Kondo M, Iwata T, Tsuneoka H. Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy. Br J Ophthalmol. 2015;99:1577-82

Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T. Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). Ophthalmic Genet. 2015;36:137-44

Kato Y, Tsunoda K, Fujinami K, Iwata T, Saga M, Oguchi Y. Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease. Invest Ophthalmol Vis Sci. 2015;56:2162-72

Kuniyoshi K, Sakuramoto H, Yoshitake K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations. Doc Ophthalmol. 2015;131:71-9

Kuniyoshi K, Ikeo K, Sakuramoto H, Furuno M, Yoshitake K, Hatsukawa Y, Nakao A, Kusaka S, Shimomura Y, Iwata T. Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy Documenta Ophthalmologica. Documenta Ophthalmologica 2015;130:49-55

Katagiri S, Hayashi T, Akahori M, Itabashi T, Nishino J, Yoshitake K, Furuno M, Ikeo K, Okada T, Tsuneoka H and Iwata T. RHO mutations (p.W126L and p.A346P) in two Japanese families with autosomal dominant retinitis pigmentosa. Journal of Ophthalmology 2014;2014:210947. doi: 10.1155/2014/210947

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. Whole exome analysis identifies frequent CNGA1mutations in Japanese population with autosomal recessive retinitis pigmentosa. PLoS One 2014;9(9):e108721

Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T. Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. Ophthalmic Genetics 2014;12:1-8

Tanito M, Hara K, Akahori M, Harata A, Itabashi T, Takai Y, Kaidzu S, Ohira A, Iwata T. Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits. Acta Ophthalmologica 2014; Aug 12

Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/severe early childhood onset retinal dystrophy with RDH12 mutation. Documenta Ophthalmologica 2014;128:219-228

Katagiri S, Akahori M, Hayashi T, Yoshitake K, Gekka T, Ideo K, Tsuneoka H, Iwata T. Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene. Documenta Ophthalmologica 2014;128:211-2117

Katagiri S, Yoshitake K, Akahori M, Hayashi T, Furuno M, Nishino J, Ikeo K, Tsuneoka H, Iwata T. Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alstrom Syndrome. Molecular Vision 2013;19:2393-406

Sakuramoto H, Kuniyoshi K, Tsunoda K, Akahori M, Iwata T, Shimomura Y. Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration. Journal of Clinical Ophthalmology. 2013;7:1703-11

Nakamura N, Tsunoda K, Fujinami K, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Iwata T, Miyake Y. [Long-term observation over ten years of four cases of cone dystrophy with supernormal rod electroretinogram]. Nihon Ganka Gakkai Zasshi. 2013;117:629-40

Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Itabashi T, Iwata T, Ozawa Y, Tsubota K, Miyake Y. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. Molecular Vision 2013;19:1580-90

Minegishi Y, Iejima D, Kobayashi H, Chi Z-L, Kawase K, Yamamoto T, Seki T, Yuasa S, Fukuda K, Iwata T. Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma. Human Molecular Genetics 2013;22:3559-67

Chen CJ, Scholl HP, Birch DG, Iwata T. Miller NR, Goldberg MF. Characterizing the phenotype and genotype of a family with occult macular dystrophy. JAMA Ophthalmology 2012;130:1554-9

Kabuto T, Takahashi H, Goto-Fukuura Y, Igarashi T, Akahori M, Kameya S, Iwata T, Mizota A, Yamaki K, Miyake Y, Takahashi H. A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. Molecular Vision 2012;18:1031-9

Tsunoda K, Usui T, Hatase T, Yamai S, Fujinami K, Hanazono G, Shinoda K, Ohde H, Akahori M, Iwata T, Miyake Y. Clinical characteristics of occult macular dystrophy in a large family with mutation of RP1L1 gene. Retina 2012;32:1135-47

Hara K, Akahori M, Tanito M, Kaidzu S, Ohira A, Iwata T. Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion. Molecular Vision 2011;17:3309-13

Fujinami K, Akahori M, Fukui M, Tsunoda K, Iwata T, Miyake Y. Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene. Acta Ophthalmologica 2011;89(3):e297-8. doi: 10.1111/j.1755-3768.2009.01848.x

PAGETOP

Japan Eye Genetics Consortium (JEGC)

JEGCの紹介

活動経歴

プレスリリース

対象疾患

研究代表

研究員

事務

研究分担

疾患リーダー

研究協力

公的研究費

論文発表

About JEGC

Target Inherited Eye Diseases

History

Members

Head

Takeshi Iwata

Head of Disease Diagnostic

Kazushige Tsunoda

Genome/Functional Analysis

Akiko Suga

Genome/Functional Analysis

Yang Pan

Genome Analysis/Computer System

Kazutoshi Yoshitake

Administration

Yu Teruyama

Diagnostic Leader

Kazuki Kuniyoshi

Diagnostic Leader

Takaaki Hayashi

Diagnostic Leader

Shinji Ueno

Diagnostic Leader

Kei Shinoda

Diagnostic Leader

Hiroyuki Kondo

Diagnostic Leader

Mineo Kondo

Diagnostic Leader

Makoto Nakamura

Diagnostic Leader

Kaoru Fujinami

Diagnostic Leader

Shuhei Kameya

Diagnostic Leader

Nobuhisa Naoi

CAGE Project

Yoshihide Hayashizaki

CAGE Project

Yasuhiro Murakawa

CAGE Project

Hideya KawajiRIKEN

CAGE Project

Carninci Piero

Proteome Project

Toshihide Nishimura

Animal Model Project

Nobuhiro Shimozawa

Collaborators

Government Funding

Publication

Hideya Kawaji
RIKEN