Identification of the origins of inherited retinal diseases and clarification of genotype-phenotype correlations based on three major ethnic groups worldwide utilizing artificial intelligence.

• Project/Area Number: 22KJ2665
• Project/Area Number (Other): 21J21086 (2021-2022)
• Research Category: Grant-in-Aid for JSPS Fellows
• Allocation Type: Multi-year Fund (2023); Single-year Grants (2021-2022)
• Section: 国内
• Review Section: Basic Section 43050:Genome biology-related
• Research Institution: Keio University
• Principal Investigator: 藤波 優 慶應義塾大学, 医学研究科, 特別研究員(DC1)
• Project Period (FY): 2023-03-08 – 2024-03-31
• Project Status: Completed (Fiscal Year 2023)
• Budget Amount: ¥2,200,000 (Direct Cost: ¥2,200,000); Fiscal Year 2023: ¥700,000 (Direct Cost: ¥700,000); Fiscal Year 2022: ¥700,000 (Direct Cost: ¥700,000); Fiscal Year 2021: ¥800,000 (Direct Cost: ¥800,000)
• Keywords: 遺伝性網膜疾患 / 人工知能

Outline of Research at the Start

近年欧米で先行している遺伝性網膜疾患治療に対して、病的バリアントの起源・分散・民族性を同定するとともに、人工知能を活用した遺伝型表現型相関構築を通じて、各民族を対象とした病態解明をすすめる。本研究が、日本を含む非欧米地域における遺伝性網膜疾患への治療導入の足がかりとなることが期待される。

Outline of Annual Research Achievements

本研究の目的は、7大陸27カ国の多民族に渡る遺伝性網膜疾患コホートにおいて、病的バリアントの起源・分散・民族性を同定すると伴に、人工知能を活用した遺伝型表現型相関構築を通じて、各民族を対象とした病態解明を世界規模で推し進める事である。
機械学習により、臨床画像から疾患重症度診断、原因遺伝子予測を構築し、日本人コホートにおいて、罹患率の高い遺伝子に対して、遺伝型表現型関連解析を実践する。本研究で構築される、世界規模でのゲノムデータを活用しての、疾患理解の推進、人口知能を活用する事により可能となる民族基盤遺伝型表現型相関の構築は、治療法が確立されていない難病解決モデルとして、大きなインパクトが予想され近未来では、遠隔医療の現場等で、APIを用いた一時スクリーニングが実現する事で、医療の質向上、医療費の削減の両者に大きく寄与する事が期待される。本研究はこれまでに、研究代表者が参画しているEast Asia Retinal Disease Consortium を含めた、Global Inherited Retinal Disease Consortium を活用し、症例リクルートが完了した。得られたデータの標準化が行われ、人工知能を用いた遺伝型相関の構築が実践された。対象として抽出された原因遺伝子群ごとに、重症度カテゴリーをアウトカムとして、画像のデイープラーニングが行われた。その結果、世界で初めてバリアントレベルでの診断支援システムが確立され、結果が成果として公表された。本研究に関連してこれまでに論文32報、著書10報、学会発表53回、招待講演8回が行われている。

Research Products

• [Int'l Joint Research] SNUBH/SNUCM/Hanyang University College of Medicine(韓国)
• [Int'l Joint Research] UCL Institute of Ophthalmology/Oxford Eye Hospital/Royal Liverpool University Hospitals(英国)
• [Int'l Joint Research] Peking Union Medical College Hospital/Third Military Medical University/Henan Provincial Eye Hospital(中国)
• [Int'l Joint Research] University of Nairobi(ケニア)
• [Int'l Joint Research] Lions Eye Institute(オーストラリア)
• [Int'l Joint Research]
• [Int'l Joint Research] Se Joon Woo/Seong Joon Ahn/Kwangsic Joo(韓国)
• [Int'l Joint Research] Ruifang Sui/Lizhu Yang/Xiao Liu(中国)
• [Int'l Joint Research] Hwei Wuen Chen/Choi MunChan(シンガポール)
• [Int'l Joint Research] FredChen/Jason Charng/EnidChelva(オーストラリア)
• [Int'l Joint Research] Michel Michaelides/Anthony G Robson/Nikolas Pontikos(英国)
• [Int'l Joint Research]
• [Int'l Joint Research] UCL Institute of Ophthalmology/The University of Mancheter(英国)
• [Int'l Joint Research] Hanyang University College of Medicine/Seoul National University College(韓国)
• [Int'l Joint Research] Peking Union Medical College(中国)
• [Int'l Joint Research] Lions Eye Institute(オーストラリア)
• [Int'l Joint Research] University of Nairobi(ケニア)
• [Journal Article] Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4 (2024)
  • Author(s): Fujinami-Yokokawa Y, Joo K, Liu X, Tsunoda K, Kondo M, Ahn SJ, Robson AG, Naka I, Ohashi J, Li H, Yang L, Arno G, Pontikos N, Park KH, Michaelides M, Tachimori H, Miyata H, Sui R, Woo SJ, Fujinami K§.; East Asia Inherited Retinal Disease Society Study Group
  • Journal Title: Invest Ophthalmol Vis Sc Volume: 2;65(1) Issue: 1 Pages: 41-41
  • DOI: 10.1167/iovs.65.1.41
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom (2024)
  • Author(s): Woof William、de Guimares...、Fujinami-Yokokawa Yu、他
  • Volume: -
  • DOI: 10.1101/2024.03.24.24304809
• [Journal Article] IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History (2024)
  • Author(s): Sen Sagnik、Fabozzi Lorenzo、Fujinami Kaoru、Fujinami-Yokokawa Yu、Wright Genevieve A.、Webster Andrew、Mahroo Omar、Robson Anthony G.、Georgiou Michalis、Michaelides Michel
  • Journal Title: American Journal of Ophthalmology Volume: - Pages: 205-215
  • DOI: 10.1016/j.ajo.2024.03.009
• [Journal Article] “Congenital Stationary Night Blindness: Structure, Function and Genotype ? Phenotype Correlations in a cohort of 122 patients.” (2024)
  • Author(s): Katta Mohamed、de Guimaraes Thales AC.、Fujinami-Yokokawa Yu、Fujinami Kaoru、Georgiou Michalis、Mahroo Omar A.、Webster Andrew R.、Michaelides Michel
  • Journal Title: Ophthalmology Retina Volume: - Issue: 9 Pages: 932-941
  • DOI: 10.1016/j.oret.2024.03.017
• [Journal Article] Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy (2024)
  • Author(s): Hashem Shaima Awadh、Georgiou Michalis、Fujinami-Yokokawa Yu、Laich Yannik、Daich Varela Malena、de Guimaraes Thales A.C.、Ali Naser、Mahroo Omar A.、Webster Andrew R.、Fujinami Kaoru、Michaelides Michel
  • Journal Title: American Journal of Ophthalmology Volume: 263 Pages: 1-10
  • DOI: 10.1016/j.ajo.2024.02.005
• [Journal Article] Best Vitelliform Macular Dystrophy Natural History Study Report 1 (2024)
  • Author(s): Laich Yannik、Georgiou Michalis、Fujinami Kaoru、Daich Varela Malena、Fujinami-Yokokawa Yu、Hashem Shaima Awadh、Cabral de Guimaraes Thales Antonio、Mahroo Omar A.、Webster Andrew R.、Michaelides Michel
  • Journal Title: Ophthalmology Volume: - Issue: 7 Pages: 845-854
  • DOI: 10.1016/j.ophtha.2024.01.027
• [Journal Article] Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes (2024)
  • Author(s): Georgiou Michalis、Robson Anthony G.、Fujinami Kaoru、de Guimar?es Thales A.C.、Fujinami-Yokokawa Yu、Daich Varela Malena、Pontikos Nikolas、Kalitzeos Angelos、Mahroo Omar A.、Webster Andrew R.、Michaelides Michel
  • Journal Title: Progress in Retinal and Eye Research Volume: 100 Pages: 101244-101244
  • DOI: 10.1016/j.preteyeres.2024.101244
• [Journal Article] RBP3-Retinopathy?Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping (2024)
  • Author(s): Georgiou Michalis、Fujinami Kaoru、Robson Anthony G.、Fujinami-Yokokawa Yu、Shakarchi Ahmed F.、Ji Marco H.、Uwaydat Sami H.、Kim Angela、Kolesnikova Masha、Arno Gavin、Pontikos Nikolas、Mahroo Omar A.、Tsang Stephen H.、Webster Andrew R.、Michaelides Michel
  • Journal Title: American Journal of Ophthalmology Volume: 258 Pages: 119-129
  • DOI: 10.1016/j.ajo.2023.09.025
• [Journal Article] Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5 (2023)
  • Author(s): Fujinami-Yokokawa Yu、Yang Lizhu、Joo Kwangsic、Tsunoda Kazushige、Liu Xiao、Kondo Mineo、Ahn Seong Joon、Li Hui、Park Kyu Hyung、Tachimori Hisateru、Miyata Hiroaki、Woo Se Joon、Sui Ruifang、Fujinami Kaoru
  • Journal Title: Genes Volume: 14 Issue: 10 Pages: 1869-1869
  • DOI: 10.3390/genes14101869
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Stargardt macular dystrophy and therapeutic approaches (2023)
  • Author(s): Fujinami Kaoru、Waheed Nadia、Laich Yannik、Yang Paul、Fujinami-Yokokawa Yu、Higgins Joseph J、Lu Jonathan T、Curtiss Darin、Clary Cathryn、Michaelides Michel
  • Journal Title: British Journal of Ophthalmology Volume: - Pages: bjo-2022-323071
  • DOI: 10.1136/bjo-2022-323071
• [Journal Article] KCNV2-associated retinopathy: genotype-phenotype correlations KCNV2 study group report 3 (2023)
  • Author(s): de Guimaraes Thales A C、Georgiou Michalis、...、Fujinami-Yokokawa Yu、他
  • Journal Title: British Journal of Ophthalmology Volume: - Issue: 8 Pages: 1137-1144
  • DOI: 10.1136/bjo-2023-323640
• [Journal Article] CERKL-Associated Retinal Dystrophy (2023)
  • Author(s): Daich Varela Malena、Duignan Emma S.、De Silva Samantha R.、Ba-Abbad Rola、Fujinami-Yokokawa Yu、Leo Shaun、Fujinami Kaoru、Mahroo Omar A.、Robson Anthony G.、Webster Andrew R.、Michaelides Michel
  • Journal Title: Ophthalmology Retina Volume: 7 Issue: 10 Pages: 918-931
  • DOI: 10.1016/j.oret.2023.06.007
• [Journal Article] CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History (2023)
  • Author(s): Daich Varela Malena、Georgiou Michalis、Alswaiti Yahya、Kabbani Jamil、Fujinami Kaoru、Fujinami-Yokokawa Yu、Khoda Shaheeni、Mahroo Omar A.、Robson Anthony G.、Webster Andrew R.、AlTalbishi Alaa、Michaelides Michel
  • Journal Title: American Journal of Ophthalmology Volume: 246 Pages: 107-121
  • DOI: 10.1016/j.ajo.2022.09.002
• [Journal Article] Visual Field Characteristics in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report No. 3 (2022)
  • Author(s): 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
  • Journal Title: Invest Ophthalmol Vis Sci Volume: 63 Issue: 1 Pages: 12-12
  • DOI: 10.1167/iovs.63.1.12
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] X-Linked Retinoschisis (2022)
  • Author(s): Georgiou Michalis、Finocchio Lucia、Fujinami Kaoru、Fujinami-Yokokawa Yu、Virgili Gianni、Mahroo Omar A.、Webster Andrew R.、Michaelides Michel
  • Journal Title: Ophthalmology Volume: 129 Issue: 5 Pages: 542-551
  • DOI: 10.1016/j.ophtha.2021.11.019
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] 連載 今月の話題 AI時代の遺伝性網膜疾患 (2021)
  • Author(s): 藤波(横川) 優、藤波 芳、宮田 裕章
  • Journal Title: 臨床眼科 Volume: 75 Issue: 13 Pages: 1574-1581
  • DOI: 10.11477/mf.1410214234
  • ISSN: 0370-5579, 1882-1308
  • Year and Date: 2021-12-15
• [Journal Article] Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. (2021)
  • Author(s): 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.
  • Journal Title: Br J Ophthalmol Volume: - Issue: 9 Pages: 1272-1279
  • DOI: 10.1136/bjophthalmol-2020-318544
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] KCNV2-associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints - KCNV2 Study Group Report 2 (2021)
  • Author(s): Georgiou M, Fujinami K,,..., Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carre?o E, Garcia-Sandoval B, Carmen A, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, H?on E, Khan AO, Zrenner E, Michaelides M.
  • Journal Title: Am J Ophthalmol Volume: S0002-9394(21) Pages: 00117-3
  • DOI: 10.1016/j.ajo.2021.03.004
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Long-term follow-up of a Chinese patient with KCNV2-retinopathy (2021)
  • Author(s): Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S.
  • Journal Title: Ophthalmic Genet Volume: 42(2) Issue: 2 Pages: 144-149
  • DOI: 10.1080/13816810.2020.1861307
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2 (2021)
  • Author(s): 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
  • Journal Title: Am J Ophthalmol Volume: 221 Pages: 169-180
  • DOI: 10.1016/j.ajo.2020.07.025
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1 (2020)
  • Author(s): Georgiou M, Robson AG, Fujinami K, ..., Fujinami-Yokokawa Y, et al.
  • Journal Title: Am J Ophthalmol Volume: 225 Pages: 95-107
  • DOI: 10.1016/j.ajo.2020.11.022
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Presentation] 遺伝性網膜疾患患者における角膜電気刺激誘発電気反応 (2024)
  • Author(s): 藤波（横川）優, 鈴木 泰賢, Jeffrey Farmer, 篠田啓, 角田和繁, 三宅養三, 藤波 芳
  • Organizer: 第70回 日本臨床視覚電気生理学会
  • Int'l Joint Research
• [Presentation] Electrically Evoked Responses Elicited by Transcorneal Electrical Stimulation in Patients with Retinitis Pigmentosa. (2023)
  • Author(s): Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki1, Motosh Yamamoto, Kayoko Komatsu, Natsuki Maetani, Hisateru Tachimori, Hiroaki Miyata, Jeffrey Farmer, Kei Shinoda, Kazushige Tsunoda, Yozo Miyake, Kaoru Fujinami.
  • Organizer: 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
  • Int'l Joint Research
• [Presentation] Dark-adapted Full-field Stimulus Threshold in Ultra-low vision Patients with Retinitis Pigmentosa (2023)
  • Author(s): Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda
  • Organizer: 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
  • Int'l Joint Research
• [Presentation] Deep phenotyping of NR2E3 G56R-retinopathy in a Japanese patient (2023)
  • Author(s): Kayoko Komatsu, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Gavin Arno, Nikolas Pontikos, Motoshi Yamamoto, Natsuki Maetani, Kazushige Tsunoda, Kaoru Fujinami
  • Organizer: 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
  • Int'l Joint Research
• [Presentation] Deep phenotyping of RBP3-retinopathy; inherited pathological myopia and retinal dystrophy (2023)
  • Author(s): Motoshi Yamamoto, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Gavin Arno, Nikolas Pontikos, Kayoko Komatsu, Natsuki Maetani, Kazushige Tsunoda, Michel Michaelides, Kaoru Fujinami
  • Organizer: 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
  • Int'l Joint Research
• [Presentation] Full-Field Pupillary Light Responses in Patients with Retinitis Pigmentosa and Healthy Subjects. (2023)
  • Author(s): Natsuki Maetani, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Motoshi Yamamoto, Kayoko Komatsu, Jeffrey Farmer, Kazushige Tsunoda, Kaoru Fujinami.
  • Organizer: 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
  • Int'l Joint Research
• [Presentation] The electrophysiological and clinical features of CERKL-associated retinal dystrophy with genotype-phenotype associations. (2023)
  • Author(s): Anthony G. Robson, Malena Daich Varela, Samantha De Silva, Emma Duignan, Rola Ba-Abbad, Yu Fujinami-Yokokawa, Shaun Leo, Kaoru Fujinami, Omar A Mahroo, Andrew R. Webster, Michel Michaelides.
  • Organizer: 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
  • Int'l Joint Research
• [Presentation] Electrically Evoked Responses Elicited by Transcorneal Electrical Stimulation in Patients with Retinitis Pigmentosa. (2023)
  • Author(s): Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Motoshi Yamamoto, Kayoko Komatsu, Natsuki Maetani, Hisateru Tachimori, Hiroaki Miyata, Jeffrey Farmer, Kei Shinoda, Kazushige Tsunoda, Yozo Miyake, Kaoru Fujinami.
  • Organizer: Association for Research in Vision and Ophthalmology (ARVO) 2023 Annual Meeting
  • Int'l Joint Research
• [Presentation] Dark-adapted Full-field Stimulus Threshold in Ultra-low Vision Patients with Retinitis Pigmentosa. (2023)
  • Author(s): Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda.
  • Organizer: Association for Research in Vision and Ophthalmology (ARVO) 2023 Annual Meeting
  • Int'l Joint Research
• [Presentation] Distinct clinical effect of two RP1L1 hotspots of East Asian Patients with Occult Macular Dystrophy (Miyake disease); Identification of variant-based genotype by deep learning. (2023)
  • Author(s): Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, Kazushige Tsunoda, Mineo Kondo, Izumi Naka, Jun Ohashi, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui, Kaoru Fujinami.
  • Organizer: The 68th Annual Meeting of Japanese Society of Human Genetics
  • Int'l Joint Research
• [Presentation] Occult Macular Dysfunction Syndrome: Identification of multiple causative genes of macular dysfunction with normal fundus. (2023)
  • Author(s): Kaoru Fujinami, Yu Fujinami-Yokokawa, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Xiao Liu, Mineo Kondo, Izumi Naka, Jun Ohashi, Satomi Inoue, Kazuki Yamazawa, Tatsuo Matsunaga, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui.
  • Organizer: The 68th Annual Meeting of Japanese Society of Human Genetics
  • Int'l Joint Research
• [Presentation] 重度網膜色素変性症における全視野光覚閾値 (2023)
  • Author(s): 藤波 芳, 藤波 優, 鈴木泰賢, Xiao Liu, Oscar Onyango, Jeff Farmer, Michel Michaelides, 角田和繁
  • Organizer: 第62回 日本網膜硝子体学会総会
  • Int'l Joint Research
• [Presentation] Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): perimetric features and their association with genotype (2023)
  • Author(s): Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Motosh Yamamoto, Kayoko Komatsu, Natsuki Maetani, Hisateru Tachimori, Hiroaki Miyata, Jeffrey Farmer, Kei Shinoda, Kazushige Tsunoda, Yozo Miyake, Kaoru Fujinami.
  • Organizer: The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023
  • Int'l Joint Research
• [Presentation] East Asian Patients with Occult Macular Dystrophy Report No.4; Genotype Phenotype Association (2022)
  • Author(s): Yu Fujinami-Yokokawa, Kwangsic Joo, Kazushige Tsunoda, Mineo Kondo, Xuan Zou, Hui Li, Kyu Hyung Park, Izumi Naka, Jun Ohashi, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui, Kaoru Fujinami.
  • Organizer: The Association for Research in Vision and Ophthalmology annual meeting 2022. RVO 2022 Annual Meeting
  • Int'l Joint Research
• [Presentation] Electrically evoked responses in severe retinitis pigmentosa (2022)
  • Author(s): Yu Fujinami-Yokokawa, Yasutaka Suzuki, Hisateru Tachimori, Hiroaki Miyata, Jeffrey Farmer, Kei Shinoda, Kazushige Tsunoda, Yozo Miyake, Kaoru Fujinami.
  • Organizer: The 59th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2022
  • Int'l Joint Research
• [Presentation] Prediction of Causative Genes in Inherited Retinal Disorders from Fundus Photography and Autofluorescence Imaging (2022)
  • Author(s): Yu Fujinami-Yokokawa
  • Organizer: EVER Congress 2022
  • Int'l Joint Research / Invited
• [Presentation] 東アジアの黄斑変性症患者における2つのRP1L1ホットスポットの異なる臨床症状; EAOMD Report No.4 (2022)
  • Author(s): Yu Fujinami-Yokokawa, Seong Joon Ahn, Kwangsic Joo, Kazushige Tsunoda, Mineo Kondo, Hui Li, Kyu Hyung Park, Izumi Naka, Jun Ohashi, Hisateru Tachimori, Hiroaki Miyata, Se Joon Woo, Ruifang Sui, Kaoru Fujinami ,EAIRDs group.
  • Organizer: 日本人類遺伝学会第67回大会
  • Int'l Joint Research
• [Presentation] The clinical and electrophysiological features of CRB1- associated retinal dystrophies. (2022)
  • Author(s): Anthony G. Robson, Malena Daich Varela, Michalis Georgiou, Shaheeni Khoda, Kaoru Fujinami, Yu Fujinami-Yokokawa, Andrew R. Webster, Michel Michaelides.
  • Organizer: The 59th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2022
  • Int'l Joint Research
• [Presentation] Dark-adapted full-field stimulus threshold in severely affected patients with retinitis pigmentosa (2022)
  • Author(s): Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda.
  • Organizer: The 59th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2022
  • Int'l Joint Research
• [Presentation] Full-Field Scotopic Thresholds for Color Stimuli in Severe Patients with Retinitis Pigmentosa (2022)
  • Author(s): Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda
  • Organizer: The Association for Research in Vision and Ophthalmology annual meeting 2022. e Association for Research in Vision and Ophthalmology (ARVO) 2022 Annual Meeting
  • Int'l Joint Research
• [Presentation] Dark-adapted Full-field Stimulus Threshold in Ultra-low vision Patients with Retinitis Pigmentosa (2022)
  • Author(s): Kaoru Fujinami, Yu Fujinami-Yokokawa, Yasutaka Suzuki, Jeffrey Farmer, Kazushige Tsunoda
  • Organizer: The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
  • Int'l Joint Research
• [Presentation] Deep phenotyping of RBP3-retinopathy; inherited pathological myopia and retinal dystrophy (2022)
  • Author(s): Motoshi Yamamoto, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Gavin Arno, Nikolas Pontikos, Kayoko Komatsu, Natsuki Maetani1, Kazushige Tsunoda, Michel Michaelides, Kaoru Fujinami
  • Organizer: The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
  • Int'l Joint Research
• [Presentation] Deep phenotyping of NR2E3 G56R-retinopathy in a Japanese patient (2022)
  • Author(s): Kayoko Komatsu, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Gavin Arno, Nikolas Pontikos, Motoshi Yamamoto, Natsuki Maetani, Kazushige Tsunoda, Kaoru Fujinami
  • Organizer: The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
  • Int'l Joint Research
• [Presentation] Full-Field Pupillary Light Responses in Patients with Retinitis Pigmentosa and Healthy Subjects (2022)
  • Author(s): Natsuki Maetani, Yu Fujinami-Yokokawa, Oscar Onyango, Yasutaka Suzuki, Motoshi Yamamoto, Kayoko Komatsu, Jeffrey Farmer, Kazushige Tsunoda, Kaoru Fujinami.
  • Organizer: The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
  • Int'l Joint Research
• [Presentation] The electrophysiological and clinical features of CERKL-associated retinal dystrophy with genotype-phenotype associations. (2022)
  • Author(s): Anthony G. Robson, Malena Daich Varela, Samantha De Silva, Emma Duignan, Rola Ba-Abbad, Yu Fujinami-Yokokawa, Shaun Leo, Kaoru Fujinami, Omar A Mahroo, Andrew R. Webster, Michel Michaelides.
  • Organizer: The 60th Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV) 2023, KYOTO
  • Int'l Joint Research
• [Presentation] Prediction of Causative Genes in Inherited Retinal Disorders From fundus photography and autofluorescence imaging Utilizing Deep Learning Techniques (2021)
  • Author(s): Fujinami-Yokokawa Y, Ninomiya H, Liu X, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K
  • Organizer: 日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催
• [Presentation] Prediction of Causative Genes in Inherited Retinal Disorders from Fundus photography and Fundus Autofluorescence Imaging Utilising Deep Learning Techniques). (2021)
  • Author(s): 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
  • Organizer: The Association for Research in Vision and Ophthalmology (ARVO) 2021 Annual Meeting
  • Int'l Joint Research
• [Presentation] 網膜色素変性症における全視野光覚閾値 (2021)
  • Author(s): 藤波 芳, 藤波 優, 鈴木 泰賢, Jeffrey Farmer,角田和繁
  • Organizer: 第60回日本網膜硝子体学会
• [Presentation] The clinical and genetic spectrum of cone-dominated retinal dystrophies with normal funduscopic appearance (2021)
  • Author(s): Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Kondo M, Mizota A, Shinoda K, Mochizuki K, Kameya S, Ideta R, Naoi N, Ikeda Y, Fujinami-Yokokawa Y, Yang L, Liu X, Yoshitake K, Miyake Y, Iwata T, Tsunoda K; Japan Eye Genetics Consortium Study Group.
  • Organizer: The Association for Research in Vision and Ophthalmology (ARVO) 2021 Annual Meeting
  • Int'l Joint Research
• [Presentation] East Asia Inherited Retinal Disease Society Overview -concept and history- (2021)
  • Author(s): Fujinami K, Fujinami-Yokokawa Y
  • Organizer: 3rd East Asia Inherited Retinal Disease symposium
  • Int'l Joint Research
• [Book] 網膜色素変性症の遺伝子治療. (2023)
  • Author(s): 藤波 芳, 藤波（横川） 優, Nikolas Pontikos.
  • Publisher: 日本医師会雑誌 152巻7号, 2023年10月, pp.794-796.
• [Book] 黄斑ジストロフィ (2023)
  • Author(s): 藤波（横川） 優, 藤波 芳, Nikolas Pontikos.
  • Publisher: 眼科エクレール 2巻, 2023年10月, pp.272-280.
• [Book] その他の黄斑ジストロフィ (2023)
  • Author(s): 藤波（横川） 優, 藤波 芳
  • Publisher: 新編眼科プラクテイス11巻, 2023年10月, pp.214-219.
• [Book] 遺伝子治療のTOPICS (2022)
  • Author(s): 藤波 芳、藤波（横川）優、Liu Xiao, 鈴木 泰賢, Arno Gavin, Pontikos Nikolas.
  • Total Pages: 7
  • Publisher: Retina Medicine
• [Book] 黄斑ジストロフィ病型と遺伝子診断 (2022)
  • Author(s): 藤波 芳、藤波（横川）優．黄斑ジストロフィ病型と遺伝子診断.
  • Total Pages: 7
  • Publisher: 臨床眼科
• [Book] Clinical Ophthalmic Genetics and Genomics (2022)
  • Author(s): Fujinami-Yokokawa Y, Robson AG, Sergouniotis PI, Fujinaim K*.
  • Total Pages: 1394
  • Publisher: ELSEVIER
• [Book] Inherited Retinal Disease (2022)
  • Author(s): Fujinami K*, Fujinami-Yokokawa Y,* Yang L, Liu X, Arno G, Pontikos N
  • Total Pages: 237
  • Publisher: SPRINGER