1)藤波 芳:遺伝性網膜疾患の現状と展望.医療70:282-287,2016
2)Sohocki MM, Daiger SP, Bowne SJ et al:Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 17:42-51, 2001
3)Liew G, Michaelides M, Bunce C:A comparison of the causes of blindness certifications in England and Wales in working age adults(16-64 years), 1999-2000 with 2009-2010. BMJ Open. doi:10.1136/bmjopen-2013-004015, 2014.
4)厚生労働科学研究費補助金難治性疾患政策研究事業網膜脈絡膜・視神経萎縮症に関する調査研究班 網膜色素変性診療ガイドライン作成ワーキンググループ:網膜色素変性診療ガイドライン.日眼会誌120:846-861,2016
5)Morizane, Y, Morimoto N, Fujiwara A et al:Incidence and causes of visual impairment in Japan:the first nation-wide complete enumeration survey of newly certified visually impaired individuals. Jpn J Ophthalmol 63:26-33, 2019
6)Roberts CB, Hiratsuka Y, Yamada M et al:Economic cost of visual impairment in Japan. Arch Ophthalmol 128:766-771, 2010
7)Galvin O, Chi G, Brady L et al:The impact of inherited retinal diseases in the Republic of Ireland(ROI)and the United Kingdom(UK)from a cost-of-illness perspective. Clin Ophthalmol 14:707-719, 2020
8)Takeuchi M, Seto T, Hashimoto M et al:Performance of a deep learning-based identification system for esophageal cancer from CT images. Esophagus 18:612-620, 2021
9)Abràmoff MD, Lou Y, Erginay A et al:Improved automated detection of diabetic retinopathy on a publicly available dataset through integration of deep learning. Invest Ophthalmol Vis Sci 57:5200-5206, 2016
10)Abràmoff MD, Lavin PT, Birch M et al:Pivotal trial of an autonomous AI-based diagnostic system for detection of diabetic retinopathy in primary care offices. NPJ Digit Med. doi:10.1038/s41746-018-0040-6, 2018
11)Asaoka R, Murata H, Iwase A et al:Detecting preperimetric glaucoma with standard automated perimetry using a deep learning classifier. Ophthalmology 123:1974-1980, 2016
12)Li JO, Liu H, Ting DSJ et al:Digital technology, tele-medicine and artificial intelligence in ophthalmology:A global perspective. Prog Retin Eye Res. doi:10.1016-j.preteyeres.2020.100900, 2021
13)Kawaguchi A, Sharafeldin N, Sundaram A et al:Tele-ophthalmology for age-related macular degeneration and diabetic retinopathy screening:a systematic review and meta-analysis. Telemed J E Health 24:301-308, 2018
14)Takahashi H, Tampo H, Arai Y et al:Applying artificial intelligence to disease staging:Deep learning for improved staging of diabetic retinopathy. PLoS One. doi:10.1371/journal.pone.0179790, 2017
15)Yousefi S, Yousefi E, Takahashi H et al:Keratoconus severity identification using unsupervised machine learning. PLoS One. doi:10.1371/journal.pone.0205998, 2018
16)藤波 芳・藤波 優・Yang Lizhu・他:遺伝性網膜疾患に対する遺伝子治療.臨眼74:1472-1483,2020
17)Georgiou M, Fujinami K, Michaelides M:Inherited retinal diseases:therapeutics, clinical trials and end points-a review. Clin Exp Ophthalmol 49:270-288, 2021
18)Russell S, Bennett J, Wellman JA et al:Efficacy and safety of voretigene neparvovec(AAV2-hRPE65v2)in patients with RPE65-mediated inherited retinal dystrophy:a randomised, controlled, open-label, phase 3 trial. Lancet 390:849-860, 2017
19)Maguire AM, Russell S, Wellman JA et al:Efficacy, safety, and durability of voretigene neparvovec-rzyl in RPE65 mutation-associated inherited retinal dystrophy:results of phase 1 and 3 trials. Ophthalmology 126:1273-1285, 2019
20)Smith J, Ward D, Michaelides M et al:New and emerging technologies for the treatment of inherited retinal diseases:a horizon scanning review. Eye(Lond)29:1131-1140, 2015
21)Scholl HPN, Strauss RW, Singh MS et al:Emerging therapies for inherited retinal degeneration. Sci Transl Med. doi:10.1126/scitranslmed.aaf2838, 2016
22)藤波 芳:ゲノム情報と国内・国際ネットワーク.あたらしい眼科34:987-993,2017
23)藤波 芳・藤波(横川)優・Lizhu Yang・他:黄斑ジストロフィの分子病態.眼科60:309-321,2018
24)Georgiou M, Fujinami K, Michaelides M:Retinal imaging in inherited retinal diseases. Ann Eye Sci. doi:10.21037/aes-20-81, 2020
25)Fujinami K, Yang L, Joo K et al:Clinical and genetic characteristics of east asian patients with occult macular dystrophy(Miyake disease):East Asia occult macular dystrophy studies report number 1. Ophthalmology 126:1432-1444, 2019
26)Yang L, Fujinami K, Ueno S et al:Genetic spectrum of EYS-associated retinal disease in a large Japanese cohort:identification of disease-associated variants with relatively high allele frequency. Sci Rep 10:5497, 2020
27)Fujinami-Yokokawa Y, Ninomiya H, Liu X et al:Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. Br J Ophthalmol 105:1272-1279, 2021
28)角田和繁:網脈絡膜ジストロフィの遺伝学的病態解明および治療に向けた症例データバンクの構築.日眼会誌124:247-284,2020
29)Oishi M, Oishi A, Gotoh N et al:Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Invest Ophthalmol Vis Sci 55:7369-7375, 2014
30)Koyanagi Y, Akiyama M, Nishiguchi KM et al:Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. J Med Genet 56:662-670, 2019
31)Hosono K, Nishina S, Yokoi T et al:Molecular diagnosis of 34 Japanese families with leber congenital amaurosis using targeted next generation sequencing. Sci Rep 8:8279, 2018
32)Pontikos N, Murphy C, Moghul I et al:Phenogenon:gene to phenotype associations for rare genetic diseases. PLoS One. doi:10.1371/journal.pone.0230587, 2020
33)Fujinami-Yokokawa Y, Pontikos N, Yang L et al:Prediction of causative genes in inherited retinal disorders from spectral-domain optical coherence tomography utilizing deep learning techniques. J Ophthalmol. doi:10.1155/2019/1691064, 2019