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

关于BCD BCD文献清单 BCD患病率 BCD误诊和被低估 BCD患者遍布全球

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
  1. #Usui T, Tanimoto N, Takagi M, Hasegawa S, Abe H. (2001). Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol;132:395–402.
    View Paper
  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.
    View Paper
  3. #Li A, Jiao X, Munier FL, et al. (2004). Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet;74:817–826.
    View Paper
  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.
    View Paper
  5. #Gekka T, Hayashi T, Takeuchi T, Goto-Omoto S, Kitahara K. (2005). CYP4V2 mutations in two Japanese patients with Bietti’s crystalline dystrophy. Ophthalmic Res;37:262–269.
    View Paper
  6. #Wada Y, Itabashi T, Sato H, Kawamura M, Tada A, Tamai M. (2005). Screening for mutations in CYP4V2 gene in Japanese patients with Bietti’s crystalline corneoretinal dystrophy. Am J Ophthalmol;139:894–899.
    View Paper
  7. #Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, et al. (2005) Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet 42(6): e38.
    View Paper
  8. #Shan M, Dong B, Zhao X, Wang J, Li G, et al. (2005) Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. Mol Vis 11: 738-743.
    View Paper
  9. #Jin ZB, Ito S, Saito Y, Inoue Y, Yanagi Y, Nao-i N. (2006). Clinical and molecular findings in three Japanese patients with crystalline retinopathy. Jpn J Ophthalmol;50:426–431.
    View Paper
  10. #Lai TY, Ng TK, Tam PO, et al. (2007). Genotype phenotype analysis of Bietti’s crystalline dystrophy in patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci;48:5212–5220.
    View Paper
  11. #Fong AM, Koh A, Lee K, Ang CL. (2009). Bietti’s crystalline dystrophy in Asians: clinical, angiographic and electrophysiological characteristics. Int Ophthalmol;29:459–470.
    View Paper
  12. #Ji, S. X., Yin, X. L., He, X. G., Yuan, R. D., Ye, J., Liu, S. Z., Gan, X. M., & Dong, Y. (2009). Bietti crystalline dystrophy with bilateral macular holes. Retinal cases & brief reports, 3(4), 361–363.
    View Paper
  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.
    View Paper
  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.
    View Paper
  15. #Pennesi ME, Weleber RG. (2010). High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina;30:531–532.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  40. #Sen P, Ray R, Ravi P. (2011). Electrophysiological findings in Bietti’s crystalline dystrophy. Clin Exp Optom;94:302–308.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  44. #Kumar V, Gadkar A.(2018).  Multimodal imaging of Bietti’s crystalline dystrophy. Indian J Ophthalmol;66(7):1024–1026.
    View Paper
  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.
    View Paper
  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.
    View Paper
  47. #Brar VS, Benson WH. (2015). Infrared imaging enhances retinal crystals in Bietti’s crystalline dystrophy. Clin Ophthalmol;9:645-8.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  60. #Broadhead GK, Chang AA. (2014). Acetazolamide for cystoid macular oedema in Bietti crystalline retinal dystrophy. Korean J Ophthalmol;28(2):189–191.
    View Paper
  61. #Halford S, Liew G, Mackay DS, et al. (2014). Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy. Ophthalmology;121:1174–1184.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  68. #Atmaca, L., Muftuoglu, O. & Atmaca-Sonmez, P. (2007). Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. Eye 21, 839–842.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  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.
    View Paper
  76. #Kobat SG, Gul FC, Yusufoglu E. (2019). Bietti crystalline dystrophy and choroidal neovascularization in childhood. Int J Ophthalmol;12(9):1514-1516.
    View Paper
  77. #Tiryaki Demir S, Keles Yesiltas S, Kacar H, Akbas EB, Guven D. (2020). Optical coherence tomography and optical coherence tomography angiography imaging in Bietti crystalline dystrophy. Ophthalmic Genet. 41(2):194-197.
    View Paper
  78. #Tabatabaei A, Soleimani M, Moghimi S, Kiarudi MY. (2009). A case of Bietti crystalline dystrophy with preserved visual acuity and extinguished electroretinogram: a case report. Cases J. ;2:7100.
    View Paper
  79. #Haddad NM, Waked N, Bejjani R, et al. (2012). Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation. Mol Vis;18:1182–1188.
    View Paper
  80. #Nourinia R, Dehghan MH, Fekri S. (2017). Outcome of macular hole surgery in Bietti crystalline dystrophy. J Ophthalmic Vis Res;12(3):338–341.
    View Paper
  81. #Khojasteh, H., Roohipoor, R., Riazi-Esfahani, H., & Ghasempour, M. (2018). TOPICAL DORZOLAMIDE FOR CYSTOID MACULAR EDEMA IN BIETTI CRYSTALLINE RETINAL DYSTROPHY. Retinal cases & brief reports, 10.1097/ICB.0000000000000792. Advance online publication.
    View Paper
  82. #Harrison, R. J., Acheson, R. R., & Dean-Hart, J. C. (1987). Bietti’s tapetoretinal degeneration with marginal corneal dystrophy (crystalline retinopathy): case report. The British journal of ophthalmology, 71(3), 220–223.
    View Paper
  83. #Wilson DJ, Weleber RG, Klein ML, et al. (1989). Bietti’s crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol;107:213–221.
    View Paper
  84. #Giuffre G. (1991). Progression de la dystrophie cristalline de Bietti [Progression of Bietti’s crystalline dystrophy]. Journal francais d’ophtalmologie, 14(4), 249–254.
    View Paper
  85. #Bernauer, W., & Daicker, B. (1992). Bietti’s corneal-retinal dystrophy. A 16-year progression. Retina (Philadelphia, Pa.), 12(1), 18–20.
    View Paper
  86. #Kaiser-Kupfer MI, Chan CC, Markello TC, et al. (1994). Clinical biochemical and pathologic correlations in Bietti’s crystalline dystrophy. Am J Ophthalmol;118:569–582.
    View Paper
  87. #Sahu, D. K., & Rawoof, A. B. (2002). Bietti’s crystalline dystrophy. Indian journal of ophthalmology, 50(4), 330–332.
    View Paper
  88. #Mataftsi A, Zografos L, Millá E, Secrétan M, Munier FL.(2004). Bietti’s crystalline corneoretinal dystrophy: a cross-sectional study. Retina;24:416–426.
    View Paper
  89. #Nakamura M, Lin J, Nishiguchi K, et al. (2006). Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. Adv Exp Med Biol;572:49–53.
    View Paper
  90. #Giuffrè, G., Distefano, M. G., & Di Rosa, L. (2007). Optical coherence tomographic findings in bietti’s crystalline tapetoretinal dystrophy. Retinal cases & brief reports, 1(4), 236–238.
    View Paper
  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.
    View Paper
  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.
    View Paper
  93. #Manzouri B, Sergouniotis PI, Robson AG, Webster AR, Moore A. (2012). Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings. Arch Ophthalmol;130(11):1470-3.
    View Paper
  94. #Gocho K, Kameya S, Akeo K et al. (2014). High-resolution imaging of patients with Bietti crystalline dystrophy with CYP4V2 mutation. J Ophthalmol;(1):1–11.
    View Paper
  95. #Hirashima, T., Miyata, M., Ishihara, K., Hasegawa, T., Sugahara, M., Ogino, K., Yoshikawa, M., Hata, M., Kuroda, Y., Muraoka, Y., Ooto, S., & Yoshimura, N. (2017). Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations. Investigative ophthalmology & visual science, 58(10), 3871–3878.
    View Paper
  96. #Jinda W, Taylor TD, Suzuki Y, et al. (2017). Whole exome sequencing in eight thai patients with leber congenital amaurosis reveals mutations in the CTNNA1 and CYP4V2 genes. Invest Ophthalmol Vis Sci;58(4):2413–2420.
    View Paper
  97. #Miyata M, Hata M, Ooto S, et al. (2017). Choroidal and retinal atrophy of bietti crystalline dystrophy patients with CYP4V2 mutations compared to retinitis pigmentosa patients with EYS mutations. Retina;37(6):1193–1202.
    View Paper
  98. #Roth, B., Weng, C. (2019). Spotlight Case: Two Sparkling Retinas. American Society of Retina Specialists.
    View Paper
  99. #Meng Xiaohong (2015). Research on the genetics and clinical characteristics of the Chinese Bietti crystalline corneoretinal dystrophy.
    View Paper
  100. #Dan, H, Huang, X, Xing, Y, Shen, Y. Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. Mol Genet Genomic Med. 2020; 8:e1131.
    View Paper
  101. #Chen, Z‐J, Lin, K‐H, Lee, S‐H, et al. Mutation spectrum and genotype‐phenotype correlation of inherited retinal dystrophy in Taiwan. Clin Experiment Ophthalmol. 2020; 48: 486– 499.
    View Paper
  102. #Ameri H, Su E, Dowd-Schoeman TJ Autofluorescence of choroidal vessels in Bietti’s crystalline dystrophyBMJ Open Ophthalmology 2020;5:e000592.
    View Paper
  103. #Wang, W., Chen, W., Bai, X. et al. Multimodal imaging features and genetic findings in Bietti crystalline dystrophy. BMC Ophthalmol 20, 331 (2020).
    View Paper
  104. #Huang, C. Y., Kang, E. Y., Yeh, L. K., Wu, A. L., Liu, P. K., Huang, I. W.,Ryu, J., Liu, L., Wu, W. C., Lai, C. C., Chen, K. J., & Wang, N. K. (2021). Predicting visual acuity in Bietti crystalline dystrophy: evaluation of image parameters. BMC ophthalmology, 21(1), 68.
    View Paper
  105. #Wu, S., Zhu, T., Sun, Z., Wei, X., Han, X., Zou, X., & Sui, R. (2021). Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations. Stem cell research, 53, 102330.
    View Paper
  106. #Zhang, S., Wang, L., Liu, Z., Sun, H., Li, Q., Xing, C., Xiao, Z., & Peng, X. (2021). Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography. BMC ophthalmology, 21(1), 239.
    View Paper
  107. #da Palma, M. M., Motta, F. L., Salles, M. V., Texeira, C., Gomes, A. V., Casaroli-Marano, R., & Sallum, J. (2021). Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy. Genes, 12(5), 713.
    View Paper
  108. #Murakami, Y., Koyanagi, Y., Fukushima, M., Yoshimura, M., Fujiwara, K., Akiyama, M., Momozawa, Y., Ueno, S., Terasaki, H., Oishi, A., Miyata, M., Ikeda, H., Tsujikawa, A., Mizobuchi, K., Hayashi, T., Fujinami, K., Tsunoda, K., Park, J. Y., Han, J., Kim, M., … Sonoda, K. H. (2021). Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients. Ophthalmology. Retina, S2468-6530(21)00063-4. Advance online publication.
    View Paper
  109. #Ma, D. J., Lee, H. S., Kim, K., Choi, S., Jang, I., Cho, S. H., Yoon, C. K., Lee, E. K., & Yu, H. G. (2021). Whole-exome sequencing
    in 168 Korean patients with inherited retinal degeneration. BMC medical genomics, 14(1), 74.
    View Paper
  110. #Wang, T., Chen, Q., Yao, X., Kuang, L., Gan, R., Wang, J., & Yan, X. (2021). New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy. Gene, 790, 145698.
    View Paper
  111. #Xu, Y., Qin, Z., Wu, N., Zhao, T., Gu, P., Ren, B., Li, L., Meng, X., & Liu, Y. (2021). Retinal and Choroidal Blood Perfusion in Patients with Bietti Crystalline Dystrophy. Retina.
    View Paper

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。