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所属 |
医学部 医学科 感覚運動医学講座眼科学分野 |
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所属学協会 【 表示 ／ 非表示 】
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日本網膜硝子体学会
2008年4月 - 現在
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日本緑内障学会
2006年4月 - 現在
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The Association for Research in Vision and Ophthalmology (ARVO)
2000年10月 - 現在
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日本遺伝子細胞治療学会
1999年4月 - 現在
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日本眼科学会
1995年5月 - 現在
論文 【 表示 ／ 非表示 】
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Genetic Risk Stratification of Primary Open-Angle Glaucoma in Japanese Individuals. 査読あり
Akiyama M, Tamiya G, Fujiwara K, Shiga Y, Yokoyama Y, Hashimoto K, Sato M, Sato K, Narita A, Hashimoto S, Ueda E, Furuta Y, Hata J, Miyake M, Ikeda HO, Suda K, Numa S, Mori Y, Morino K, Murakami Y, Shimokawa S, Nakamura S, Yawata N, Fujisawa K, Yamana S, Mori K, Ikeda Y, Miyata K, Mori K, Ogino K, Koyanagi Y, Kamatani Y, Biobank Japan Project, Ninomiya T, Sonoda KH, Nakazawa T, Japan Glaucoma Society Omics Group, Genomic Research Committee of the Japanese Ophthalmological Society
Ophthalmology 131 ( 11 ) 1271 - 1280 2024年7月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Ophthalmology
Purpose: To assess the impact of genetic risk estimation for primary open-angle glaucoma (POAG) in Japanese individuals. Design: Cross-sectional analysis. Participants: Genetic risk scores (GRSs) were constructed based on a genome-wide association study (GWAS) of POAG in Japanese people. A total of 3625 Japanese individuals, including 1191 patients and 2434 controls (Japanese Tohoku), were used for the model selection. We also evaluated the discriminative accuracy of constructed GRSs in a dataset comprising 1034 patients and 1147 controls (the Japan Glaucoma Society Omics Group [JGS-OG] and the Genomic Research Committee of the Japanese Ophthalmological Society [GRC-JOS]) and 1900 participants from a population-based study (Hisayama Study). Methods: We evaluated 2 types of GRSs: polygenic risk scores using the pruning and thresholding procedure and a GRS using variants associated with POAG in the GWAS of the International Glaucoma Genetics Consortium (IGGC). We selected the model with the highest areas under the receiver operating characteristic curve (AUC). In the population-based study, we evaluated the correlations between GRS and ocular measurements. Main Outcome Measure: Proportion of patients with POAG after stratification according to the GRS. Results: We found that a GRS using 98 variants, which showed genome-wide significance in the IGGC, showed the best discriminative accuracy (AUC, 0.65). In the Japanese Tohoku, the proportion of patients with POAG in the top 10% individuals was significantly higher than that in the lowest 10% (odds ratio [OR], 6.15; 95% confidence interval [CI], 4.35–8.71). In the JGS-OG and GRC-JOS, we confirmed similar impact of POAG GRS (AUC, 0.64; OR [top vs. bottom decile], 5.81; 95% CI, 3.79–9.01). In the population-based study, POAG prevalence was significantly higher in the top 20% individuals of the GRS compared with the bottom 20% (9.2% vs. 5.0%). However, the discriminative accuracy was low (AUC, 0.56). The POAG GRS was correlated positively with intraocular pressure (r = 0.08: P = 4.0 × 10–4) and vertical cup-to-disc ratio (r = 0.11; P = 4.0 × 10–6). Conclusions: The GRS showed moderate discriminative accuracy for POAG in the Japanese population. However, risk stratification in the general population showed relatively weak discriminative performance. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan 査読あり
Fujinami K., Nishiguchi K.M., Oishi A., Akiyama M., Ikeda Y., Hotta Y., Kondo H., Maeda A., Miyake M., Kondo M., Sakamoto T.
Japanese Journal of Ophthalmology 68 ( 4 ) 389 - 399 2024年7月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Japanese Journal of Ophthalmology
Accurate interpretation of sequence variants in inherited retinal dystrophy (IRD) is vital given the significant genetic heterogeneity observed in this disorder. To achieve consistent and accurate diagnoses, establishment of standardized guidelines for variant interpretation is essential. The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant interpretation serve as the global “cross-disease” standard for classifying variants in Mendelian hereditary disorders. These guidelines propose a systematic approach for categorizing variants into 5 classes based on various types of evidence, such as population data, computational data, functional data, and segregation data. However, for clinical genetic diagnosis and to ensure standardized diagnosis and treatment criteria, additional specifications based on features associated with each disorder are necessary. In this context, we present a comprehensive framework outlining the newly specified ACMG/AMP rules tailored explicitly to IRD in the Japanese population on behalf of the Research Group on Rare and Intractable Diseases (Ministry of Health, Labour and Welfare of Japan). These guidelines consider disease frequencies, allele frequencies, and both the phenotypic and the genotypic characteristics unique to IRD in the Japanese population. Adjustments and modifications have been incorporated to reflect the specific requirements of the population. By incorporating these IRD-specific factors and refining the existing ACMG/AMP guidelines, we aim to enhance the accuracy and consistency of variant interpretation in IRD cases, particularly in the Japanese population. These guidelines serve as a valuable resource for ophthalmologists and clinical geneticists involved in the diagnosis and treatment of IRD, providing them with a standardized framework to assess and classify genetic variants.
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Relationships between causative genes and epiretinal membrane formation in Japanese patients with retinitis pigmentosa. 査読あり
Nakamura S, Fujiwara K, Fukushima M, Shimokawa S, Shimokawa S, Koyanagi Y, Hisatomi T, Takeda A, Yasuhiro I, Murakami Y, Sonoda KH
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 ( 11 ) 3553 - 3558 2024年6月
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Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort. 査読あり
Mizobuchi K, Hayashi T, Tanaka K, Kuniyoshi K, Murakami Y, Nakamura N, Torii K, Mizota A, Sakai D, Maeda A, Kominami T, Ueno S, Kusaka S, Nishiguchi KM, Ikeda Y, Kondo M, Tsunoda K, Hotta Y, Nakano T
American journal of ophthalmology 264 36 - 43 2024年3月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：American Journal of Ophthalmology
Purpose: To clarify the genetic and clinical features of Japanese patients with ABCA4-associated retinopathy. Design: Retrospective, multicenter cohort study. Methods: Patients with retinal degeneration and biallelic ABCA4 variants were recruited from 13 different hospitals. Whole exome sequencing analysis was used for genetic testing. Comprehensive ophthalmic examinations were performed on matched patients. The primary outcome measure was identifying multimodal retinal imaging findings associated with disease progression. Results: This study included 63 patients: 19 with missense/missense, 23 with missense/truncation, and 21 with truncation/truncation genotypes. In total, 62 variants were identified, including 29 novel variants. Six patients had a mild phenotype characterized by foveal-sparing or preserved foveal structure, including 4 with missense/missense and 2 with missense/truncation genotypes. The p.Arg212His variant was the most frequent in patients with mild phenotypes (4/12 alleles). Clinical findings showed a disease duration-dependent worsening of the phenotypic stage. Patients with the truncation/truncation genotype exhibited rapid retinal degeneration within a few years and definite fundus autofluorescence imaging patterns, including hyper autofluorescence at the macula and few or no flecks. Conclusions: Our results indicate that missense/missense or missense/truncation genotypes, including the p.Arg212His variant, are associated with a relatively mild phenotype. In contrast, the truncation/truncation genotype causes rapid and severe retinal degeneration in Japanese patients with ABCA4-associated retinopathy. These data are vital in predicting patient prognosis, guiding genetic counseling, and stratifying patients for future clinical trials.
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Mawatari G., Hiwatashi S., Motani T., Nagatomo S., Ando E., Kuwahata T., Ishizu M., Ikeda Y.
Japanese Journal of Ophthalmology 68 ( 4 ) 321 - 326 2024年
担当区分：最終著者, 責任著者 記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Japanese Journal of Ophthalmology
Purpose: To investigate the efficacy of our wearable night-vision aid in patients with concentric peripheral visual field loss. Study Design: Prospective, single blind, three-group, and three-period crossover clinical study. Methods: The study included patients with concentric peripheral visual field loss, a best-corrected visual acuity (decimal visual acuity) of 0.1 or higher in the better eye, and the presence of a central visual field. HOYA MW10 HiKARI® (HOYA Corporation), our original wearable night-vision aid, was used as the test device with three types of camera lenses (standard-, middle-, and wide-angle lenses). Under both bright and dark conditions, the angle of the horizontal visual field was measured using each of the three lens types for each group. The baseline angle was measured when each participant wore the night-vision aid (powered off). Results: The study included 21 participants. Under bright condition, the perceived horizontal visual field was significantly wider than the baseline setup when using the standard-angle lens (“the standard lens”); the middle-angle lens (“the middle lens”) was significantly wider than both the baseline setup and the standard lens; and the wide-angle lens (“the wide lens”) was significantly wider than the other lenses. Under dark condition, the perceived horizontal visual field was again significantly wider when using the middle lens than the baseline setup and the standard lens, and when using the wide lens, the perceived horizontal visual field was again wider than when using the other lenses. The control in the bright condition was significantly wider (p < 0.001) than when used in the dark condition, while the standard-angle lens in the dark condition was significantly wider (p = 0.05) than when used in the bright condition. In regards to the middle and wide lenses, there was no statistically significant result emerging from either of the illumination conditions. Conclusion: Our wearable night-vision aid with a middle-angle or wide-angle lens appears to provide wider visual field images in patients with concentric peripheral visual field loss, regardless of whether the illumination conditions are bright or dark.
書籍等出版物 【 表示 ／ 非表示 】
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眼科診療ビジュアルラーニング５ 「網膜, 硝子体」
池田 康博（ 担当： 分担執筆）
中山書店 2020年9月
記述言語：日本語
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眼疾患アトラスシリーズ２ 「後眼部アトラス」
池田 康博（ 担当： 分担執筆）
総合医学社 2019年10月
記述言語：日本語
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眼疾患アトラスシリーズ２ 「後眼部アトラス」
池田 康博（ 担当： 分担執筆）
総合医学社 2019年10月
記述言語：日本語
MISC 【 表示 ／ 非表示 】
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【眼科領域の最新医療・プレシジョンメディシン】網膜色素変性の遺伝子治療
池田康博
Precision Medicine 2020年2月
記述言語：日本語 掲載種別：記事・総説・解説・論説等（学術雑誌）
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【眼科の先進的医療Up to Date】遺伝性網膜変性疾患の遺伝子治療
池田康博
あたらしい眼科 2019年11月
記述言語：日本語 掲載種別：記事・総説・解説・論説等（学術雑誌）
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機器・薬剤紹介 HOYA暗所視支援眼鏡MW-10 HiKARI
池田康博
眼科 2019年9月
記述言語：日本語 掲載種別：記事・総説・解説・論説等（学術雑誌）
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【知っておきたい稀な網膜・硝子体ジストロフィ】錐体杆体ジストロフィ
吉田倫子、池田康博
OCULISTA 2019年6月
記述言語：日本語 掲載種別：記事・総説・解説・論説等（学術雑誌）
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【眼科医の手引】 暗所視支援眼鏡
池田康博
日本の眼科 2019年3月
記述言語：日本語 掲載種別：記事・総説・解説・論説等（学術雑誌）
科研費（文科省・学振・厚労省）獲得実績 【 表示 ／ 非表示 】
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網膜脈絡膜・視神経萎縮症に関する調査研究
研究課題/領域番号：23FC1043 2023年04月 - 2026年03月
厚生労働省 厚生科研 難治性疾患政策研究事業
担当区分：研究分担者
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短後毛様動脈虚血による正常眼圧緑内障モデルの作成とアドレノメジュリン効果の検討
研究課題/領域番号：22K09770 2022年04月 - 2025年03月
独立行政法人日本学術振興会 科学研究費補助金 基盤研究(C)
中馬 秀樹、
担当区分：研究分担者
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網膜色素変性を自然発症するカニクイザルの繁殖と治療法開発への応用
研究課題/領域番号：22K09769 2022年04月 - 2025年03月
独立行政法人日本学術振興会 科学研究費基金 基盤研究(C)
担当区分：研究代表者