BCD患者遍布全球

人们在地球上手牵手的图像,表明BCD患者遍布全球。

世界各地的BCD

BCD患者遍布全球

迄今为止,大约有100篇文章报道了在全球不同地区发现的BCD患者或具有CYP4V2突变的视网膜色素变性(RP)或遗传性视网膜疾病(IRD)的患者。

地区: 东亚
报告的患者总数: 893
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国家
报告的患者总数
资料来源-论文编号
日本
173
1,2,3,5,6,7,9,14,16,27,33,34,89,92,94,95,97,108
中国
703
5,8,10,12,13,17,18,20,21,22,23,24,26,29,31,32,35,36,99,100,101,103,104,105,106,110,111
韩国
17
19,25,28,108,109
地区: 欧洲
报告的患者总数: 123
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国家
报告的患者总数
资料来源-论文编号
德国
9
38,54
英国
25
51,61,67,82,93
法国
7
38,56,57,62
瑞士
12
3,85,88
意大利
30
36,46,58,65,84,90,91
西班牙
6
53,59,63
比利时
4
38
土耳其
30
68,69,70,71,72,73,74,75,76,77
地区: 北美洲
报告的患者总数: 82
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国家
报告的患者总数
资料来源-论文编号
美国
77
3,7,15,36,47,51,52,64,83,86,98,102
加拿大
4
38,51
墨西哥
1
50
地区:南美洲
报告的患者总数: 4
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国家
报告的患者总数
资料来源-论文编号
巴西
4
107
地区: 东南亚
报告的患者总数: 28
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国家
报告的患者总数
资料来源-论文编号
泰国
1
96
新加坡
27
4,11,37
地区: 南亚
报告的患者总数: 23
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国家
报告的患者总数
资料来源-论文编号
印度
21
39,40,41,42,43,44,87
尼泊尔
2
45
地区: 中东
报告的患者总数: 19
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国家
报告的患者总数
资料来源-论文编号
以色列
1
48
伊朗
7
49,78,80,81
黎巴嫩
11
66,79
地区: 大洋洲
报告的患者总数: 2
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国家
报告的患者总数
资料来源-论文编号
新西兰
1
30
澳大利亚
1
60
地区: 非洲
报告的患者总数: 1
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国家
报告的患者总数
资料来源-论文编号
突尼斯
1
55
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  21. #Meng XH, Guo H, Xu HW, et al. (2014). Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti’s crystalline corneoretinal dystrophy. Mol Vis;20:1806–1814.
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  22. #Yin H, Jin C, Fang X, et al. (2014). Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. PLoS One;16(9):e94960.
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  25. #Kim YI, Kim IT, Kim JS. (2015). Three Cases of Outer Retinal Tubulation in Bietti’s Crystalline Dystrophy.   J Korean Ophthalmol Soc;56(7):1141-1148.
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  26. #Hua, R., Chen, K., Hu, Y., Wang, X., & Chen, L. (2015). Relapse of choroidal neovascularization in Bietti’s crystalline retinopathy following anti-vascular endothelial growth factor therapy: A case report. Experimental and therapeutic medicine, 10(5), 1704–1706.
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  27. #Miyata, M., Ooto, S., Ogino, K., Gotoh, N., Morooka, S., Makiyama, Y., Hasegawa, T., Sugahara, M., Hata, M., Yamashiro, K., & Yoshimura, N. (2016). Evaluation of Photoreceptors in Bietti Crystalline Dystrophy with CYP4V2 Mutations Using Adaptive Optics Scanning Laser Ophthalmoscopy. American journal of ophthalmology, 161, 196–205.e1.
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  28. #Park YJ, Hwang DJ, Seong MW, Park SS, Woo SJ. (2016). Bietti crystalline retinopathy confirmed by mutation of CYP4V2 gene in a Korean patient. Korean J Ophthalmol;30(1):81–83.
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  29. #Yin X, Yang L, Chen N, et al. (2016). Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy. Exp Eye Res;146:154–162.
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  30. #Raoof N, Vincent AL. (2017). Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits. Clin Exp Ophthalmol;45(4):421–424.
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  32. #Zhang X, Xu K, Dong B, et al. (2018). Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy. Mol Vis;24:700–711.
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  33. #Oishi A, Oishi M, Miyata M, et al. (2018). Multimodal imaging for differential diagnosis of Bietti crystalline dystrophy. Ophthalmol Retina;2(10):1071–1077.
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  34. #Miyata M, Oishi A, Hasegawa T, et al. (2018). Choriocapillaris flow deficit in Bietti crystalline dystrophy detected using optical coherence tomography angiography. Br J Ophthalmol;102(9):1208–1812.
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  35. #Xiao Hong Meng, Yan He, Tong Tao Zhao, Shi Ying Li,Yong Liu, Zheng Qin Yin (2019). Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations. Mol Vis.; 25: 654–662.
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  36. #Jiao X, Li A, Jin ZB, et al. (2017). Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy. Eur J Human Genet;25:461–471.
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  37. #Lee KY, Koh AH, Aung T, Yong VH, Yeung K, et al. (2005) Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci 46: 3812-3816.
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  38. #Astuti GD, Sun V, Bauwens M, et al. (2015). Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti’s retinal dystrophy. Mol Genet Genomic Med;3:14–29.
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  45. #Suwal, B., Bajimaya, S., & Bernstein, P. S. (2019). Bietti’s crystalline dystrophy in Nepalese patients: when genetic analysis supports clinical diagnosis. Ophthalmic genetics, 40(4), 390–392.
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  47. #Brar VS, Benson WH. (2015). Infrared imaging enhances retinal crystals in Bietti’s crystalline dystrophy. Clin Ophthalmol;9:645-8.
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  60. #Broadhead GK, Chang AA. (2014). Acetazolamide for cystoid macular oedema in Bietti crystalline retinal dystrophy. Korean J Ophthalmol;28(2):189–191.
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  61. #Halford S, Liew G, Mackay DS, et al. (2014). Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy. Ophthalmology;121:1174–1184.
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  63. #García-García GP, Martínez-Rubio M, Moya-Moya MA, Pérez-Santonja JJ, Escribano J. (2018). Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients. Acta Ophthalmol.;96(7):e865–e873.
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  64. #Lockhart CM, Smith TB, Yang P, et al. (2018). Longitudinal characterization of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2. Br J Ophthalmol;102(2):187–194.
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  65. #Toto L, Carpineto P, Parodi MB, Di Antonio L, Mastropasqua A, Mastropasqua L. (2013). Spectral domain optical coherence tomography and in vivo confocal microscopy imaging of a case of Bietti’s crystalline dystrophy. Clin Exp Optom;96:39–45.
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  67. #Song, W. K., Clouston, P., & MacLaren, R. E. (2019). Presence of corneal crystals confirms an unusual presentation of Bietti’s retinal dystrophy. Ophthalmic genetics, 40(5), 461–465.
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  68. #Atmaca, L., Muftuoglu, O. & Atmaca-Sonmez, P. (2007). Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. Eye 21, 839–842.
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  69. #A Ayata, S Tatlipinar, M Ünal, D Ersanli, A H Bilge. (2008) Autofluorescence and OCT features of Bietti’s crystalline dystrophy. Br J Ophthalmol; 92: 718-720.
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  70. #Bozkurt B, Ozturk BT, Kerimoglu H, Irkec M, Pekel H. (2010). In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy. Cornea;29:590–593.
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  71. #Saatci AO, Doruk HC, Yaman A, Öner FH. (2014). Spectral domain optical coherence tomographic findings of Bietti crystalline dystrophy. J Ophthalmol;2014:1–5.
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计算方法:根据每篇论文所述招募中心的所在地分配患者。 如果没有此类信息,则会根据作者所属机构的位置分配患者。 如果一篇论文涉及多个在不同地区的招募中心或机构,则将患者平均分配到各个招募中心或机构中。