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: 765
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国家
报告的患者总数
资料来源-论文编号
日本
122
1,2,3,5,6,7,9,14,16,27,33,34,89,92,94,95,97
中国
638
5,8,10,12,13,17,18,20,21,22,23,24,26,29,31,32,35,36,99,100,101,103
韩国
5
19,25,28
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: 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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  2. #Yanagi Y, Tamaki Y, Fukushima H. (2003). Fine retinal crystalline deposits observed by confocal scanning laser ophthalmoscopic examination using infrared light. British Journal of Ophthalmology;87:509-510.
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  4. #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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  13. #Lai TY, Chu KO, Chan KP, et al. (2010). Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes. Invest Ophthalmol Vis Sci;51:1092–1097.
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  14. #Yokoi Y, Nakazawa M, Mizukoshi S, Sato K, Usui T, Takeuchi K. (2010). Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene. Acta Ophthalmol;88(5):607–609.
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  15. #Pennesi ME, Weleber RG. (2010). High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina;30:531–532.
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  16. #Yokoi Y, Sato K, Aoyagi H, Takahashi Y, Yamagami M, Nakazawa M. (2011). A novel compound heterozygous mutation in the CYP4V2 gene in a japanese patient with Bietti’s crystalline corneoretinal dystrophy. Case Rep Ophthalmol;2:296–301.
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  17. #Xiao X, Mai G, Li S, Guo X, Zhang Q (2011) Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. Biochem Biophys Res Commun 409: 181- 186.
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  18. #Liu DN, Liu Y, Meng XH, Yin ZQ. (2012). The characterization of functional disturbances in Chinese patients with Bietti’s crystalline dystrophy at different fundus stages. Graefes Arch Clin Exp Ophthalmol;250:191–200.
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  19. #Chung JK, Shin JH, Jeon BR, Ki C-S, Park TK. (2013). Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene. Jpn J Ophthalmol;57:447–450.
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  20. #Song Y, Mo G, Yin G (2013) A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti’s crystalline dystrophy. Int Ophthalmol 33: 269-276.
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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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  23. #Li Q, Li Y, Zhang X, et al. (2015). Utilization of fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging in the characterization of Bietti crystalline dystrophy in different stages. Retina;35:2074–2084.
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  24. #Tian R, Wang SR, Wang J, et al. (2015). Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients. Int J Ophthalmol;8:465–469.
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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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  31. #Demile B, Guadie A, Cai W, et al. (2018). A clinical and genetic feature in Chinese Bietti crystalline dystrophy families with CYP4V2 mutations. Int J Adv Res;6(4):1022–1027.
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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.
    查看文章
  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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  39. #Battu R, Akkali MC, Bhanushali D, Srinivasan P, Shetty R, Berendschot TT, Schouten JS, Webers CA. (2016). Adaptive optics imaging of the outer retinal tubules in Bietti’s crystalline dystrophy. Eye (Lond);30(5):705-12.
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  40. #Sen P, Ray R, Ravi P. (2011). Electrophysiological findings in Bietti’s crystalline dystrophy. Clin Exp Optom;94:302–308.
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  41. #Mamatha G, Umashankar V, Kasinathan N, et al. (2011). Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization. Mol Vis;17:1970–1977.
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  42. #Padhi, T. R., Kesarwani, S., & Jalali, S. (2011). Bietti crystalline retinal dystrophy with subfoveal neurosensory detachment and congenital tortuosity of retinal vessels: case report. Documenta ophthalmologica. Advances in ophthalmology, 122(3), 199–206.
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  43. #Nachiappan, K., Krishnan, T., & Madhavan, J. (2012). Ranibizumab for choroidal neovascular membrane in a rare case of Bietti’s crystalline dystrophy: a case report. Indian journal of ophthalmology, 60(3), 207–209.
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  44. #Kumar V, Gadkar A.(2018).  Multimodal imaging of Bietti’s crystalline dystrophy. Indian J Ophthalmol;66(7):1024–1026.
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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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  46. #Rossi S, Testa F, Li A, et al. (2013). Clinical and genetic features in Italian Bietti crystalline dystrophy patients. Br J Ophthalmol;97:174–179.
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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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  48. #Beryozkin A, Shevha E, Kimchii A, et al. (2015). Whole exome sequencing reveals mutations in known retinal disease genes in 33 out of 68 Israeli families with inherited retinopathies. Sci Rep;(5):13187.
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  49. #Darki F, Fekri S, Farhangmehr S, Ahmadieh H, Dehghan MH, Elahi E. (2019). CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations. Journal of Current Ophthalmology. 31(2):172-179.
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  50. #Zenteno JC, Ayala-Ramirez R, Graue-Wiechers F (2008) Novel CYP4V2 gene mutation in a Mexican patient with Bietti’s crystalline corneoretinal dystrophy. Curr Eye Res 33: 313-318.
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  51. #Wang F, Wang H, Tuan HF, et al. (2014). Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet;133(3):331–345.
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  52. #Fuerst NM, Serrano L, Han G, et al. (2016). Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization. Ophthalmic Genet;30:1–8.
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  53. #Sánchez Vicente, J. L., Herrador Montiel, A., Díez-Garretas, C., & Guiote Linares, J. R. (2001). Distrofia cristalina de Bietti. Progresión durante 5 años [Bietti’s crystalline dystrophy. A 5-year progression]. Archivos de la Sociedad Espanola de Oftalmologia, 76(5), 323–326.
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  54. #Meyer CH, Rodrigues EB, Mennel S, Schmidt JC. (2004). Optical coherence tomography in a case of Bietti’s crystalline dystrophy. Acta Ophthalmol Scand;82(5):609-12.
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  55. #Chaker N, Mghaieth F, Baccouri R, Merdassi A, Turki F, El Matri L. (2007). Clinical and angiographic characteristics of Bietti’s corneoretinal dystrophy: a case study of an 8-year-old girl. J Fr Ophtalmol; 30(1):39-43.
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  56. #Querques G, Quijano C, Bouzitou-Mfoumou R, Soubrane G, Souied EH. (2010). In-Vivo Visualization of Retinal Crystals in Bietti’s Crystalline Dystrophy by Spectral Domain Optical Coherence Tomography. Ophthalmic Surgery, Lasers and Imaging Retina. Volume 42: E1-E3.
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  57. #Gaucher D, Saleh M, Sauer A, Bourcier T, Speeg-Schatz C. (2010). Spectral OCT analysis in Bietti crystalline dystrophy. Eur J Ophthalmol;20(3):612-4.
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  58. #Parravano M, Sciamanna M, Giorno P, Boninfante A, Varano M. (2012). Bietti crystalline dystrophy: a morpho-functional evaluation. Doc Ophthalmol;124(1):73–77.
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  59. #García-García GP, López-Garrido MP, Martínez-Rubio M, et al. (2013). Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation. Cornea;32:1002–1008.
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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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  62. #Zerbib, J., Ores, R., Querques, G., Bouzitou-Mfoumou, R., & Souied, E. H. (2014). Choroidal findings in Bietti’s crystalline dystrophy. Retinal cases & brief reports, 8(2), 130–131.
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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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  66. #Mansour, A. M., Uwaydat, S. H., & Chan, C. C. (2007). Long-term follow-up in Bietti crystalline dystrophy. European journal of ophthalmology, 17(4), 680–682.
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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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  72. #Ali Osman Saatci , Hasan Can Doruk, Aylin Yaman (2014). Cystoid Macular Edema in Bietti’s Crystalline Retinopathy. Case Reports in Ophthalmological Medicine. Vol 2014.
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  73. #Muhammed Şahin, Adnan Yıldırım, Fatih Mehmet Türkcü, Harun Yüksel, Alparslan Şahin (2016). Bietti’ Crystalline Retinal Dystrophy: A Case Report. Journal of Clinical and Experimental Investigations; 7 (1): 94-97.
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  74. #Akıncıoğlu D, Yolcu Ü, İlhan A, Gündoğan FÇ. (2016). Objective determination of retinal function in Bietti crystalline retinopathy. Turk J Ophthalmol;46(3):144–147.
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  75. #İpek, Ş. C., Ayhan, Z., Kadayıfçılar, S., & Saatci, A. O. (2019). Swept-source Optical Coherence Tomography Angiography in a Patient with Bietti Crystalline Dystrophy Followed for Ten Years. Turkish journal of ophthalmology, 49(2), 106–108.
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  76. #Kobat SG, Gul FC, Yusufoglu E. (2019). Bietti crystalline dystrophy and choroidal neovascularization in childhood. Int J Ophthalmol;12(9):1514-1516.
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  91. #Rossi, S., Testa, F., Li, A., Iorio, V. D., Zhang, J., Gesualdo, C., Corte, M. D., Chan, C. C., Fielding Hejtmancik, J., & Simonelli, F. (2011). An atypical form of Bietti crystalline dystrophy. Ophthalmic genetics, 32(2), 118–121.
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  92. #Kojima H, Otani A, Ogino K, et al. (2011). Outer retinal circular structures in patients with Bietti crystalline retinopathy. Br J Ophthalmol;96:390–393.
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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。