BCD Around the World

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BCD Around the World

About BCD BCD Literature List BCD Prevalence BCD Misdiagnosis and Underdiagnosis BCD Around the World

BCD Around the World

To date, there are about 100 publications which reported BCD patients and/or inherited retinal disease (or Retinitis Pigmentosa (RP)) patients with CYP4V2 mutations in different parts of the world.

Region: East Asia
Total No. of reported patients: 893
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Country
No. of reported patients
Source - Article No.
Japan
173
1,2,3,5,6,7,9,14,16,27,33,34,89,92,94,95,97,108
China
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
South Korea
17
19,25,28,108,109
Region: Europe
Total No. of reported patients: 123
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Country
No. of reported patients
Source - Article No.
Germany
9
38,54
U.K.
25
51,61,67,82,93
France
7
38,56,57,62
Switzerland
12
3,85,88
Italy
30
36,46,58,65,84,90,91
Spain
6
53,59,63
Belgium
4
38
Turkey
30
68,69,70,71,72,73,74,75,76,77
Region: North America
Total No. of reported patients: 82
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Country
No. of reported patients
Source - Article No.
U.S.A
77
3,7,15,36,47,51,52,64,83,86,98,102
Canada
4
38,51
Mexico
1
50
Region: South America
Total No. of reported patients: 4
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Country
No. of reported patients
Source - Article No.
Brazil
4
107
Region: Southeast Asia
Total No. of reported patients: 28
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Country
No. of reported patients
Source - Article No.
Thailand
1
96
Singapore
27
4,11,37
Region: South Asia
Total No. of reported patients: 23
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Country
No. of reported patients
Source - Article No.
India
21
39,40,41,42,43,44,87
Nepal
2
45
Region: Middle East
Total No. of reported patients: 19
Click to Expand
Country
No. of reported patients
Source - Article No.
Israel
1
48
Iran
7
49,78,80,81
Lebanon
11
66,79
Region: Oceania
Total No. of reported patients: 2
Click to Expand
Country
No. of reported patients
Source - Article No.
New Zealand
1
30
Australia
1
60
Region: Africa
Total No. of reported patients: 1
Click to Expand
Country
No. of reported patients
Source - Article No.
Tunisia
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.
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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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  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.
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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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  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.
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  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.
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  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.
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  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.
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  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.
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  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.
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  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.
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  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.
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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.
    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.
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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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  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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  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.
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  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.
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  98. #Roth, B., Weng, C. (2019). Spotlight Case: Two Sparkling Retinas. American Society of Retina Specialists.
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  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.
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  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.
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  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.
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Calculation method: patients are allocated based on the location of the recruiting center(s) as stated in each paper. If such information is unavailable, patients are allocated based on the locations of the authors’ affiliated institutions. If multiple recruiting centers or institutions are involved in a paper, patients are allocated evenly among the recruiting centers or institutions.