BCD文献清单

BCD患者视网膜的照片

结晶样视网膜色素变性是一个经常被误诊的视网膜疾病

BCD文献清单

世界不同地区的研究人员或医生发表了超过120篇与BCD相关的文献(包括对BCD患者或具有CYP4V2突变的RP或IRD患者的报道)。

  1. Bietti G. (1937). Ueber faxmiliares Vorkommen von “Retinitis punctata albescens” (verbunden mit “dystrophis marginalis cristallinea cornea”), glitzern, des glaskorpers und anderen degenerativen augenveranderungen. Klin Monbl Augenheilkd. 99:737–756.
  2. Bagolini B, Ioli-Spada G. (1968). Bietti’s tapetoretinal degeneration with marginal corneal dystrophy. Am J Ophthalmol. 65:53–60.
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  3. Welch RB. (1977). Bietti’s tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. Trans Am Ophthalmol Soc.; 75:164–179.
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  4. Francois, J., & De Laey, J. J. (1978). Bietti’s crystalline fundus dystrophy. Annals of ophthalmology, 10(6), 709–716.
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  5. Weber, U., Owczarek, J., Kluxen, G., & Bernsmeier, H. (1983). Klinischer Verlauf bei Biettischer kristalliner tapetoretinaler Degeneration [Clinical course in Bietti crystalline tapetoretinal degeneration]. Klinische Monatsblatter fur Augenheilkunde, 183(4), 259–261.
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  6. Yuzawa M, Mae Y, Matsui M.(1986). Bietti’s crystalline retinopathy. Ophthalmic Paediatr Genet;7:9–20.
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  7. 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.
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  8. Wilson DJ, Weleber RG, Klein ML, et al. (1989). Bietti’s crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol;107:213–221.
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  9. Giuffre G. (1991). Progression de la dystrophie cristalline de Bietti [Progression of Bietti’s crystalline dystrophy]. Journal francais d’ophtalmologie, 14(4), 249–254.
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  10. Bernauer, W., & Daicker, B. (1992). Bietti’s corneal-retinal dystrophy. A 16-year progression. Retina (Philadelphia, Pa.), 12(1), 18–20.
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  11. 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
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  12. Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Chader GJ. (1998). Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). Mol Genet Metab;65:143–154.
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  13. Jiao X, Munier FL, Iwata F, et al. (2000). Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet;67:1309–1313.
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  14. 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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  15. Lee J, Jiao X, Hejtmancik JF, et al. (2001). The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci;42:1707–1714
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  16. Nadim, F., Walid, H., & Adib, J. (2001). The differential diagnosis of crystals in the retina. International ophthalmology, 24(3), 113–121.
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  17. 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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  18. Saatci AO, Yaman A, Öner FH, Ergin MH, Çingil G. (2002). Indocyanine green angiography in Bietti’s crystalline retinopathy. Can J Ophthalmol;37:346–351.
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  19. Sahu, D. K., & Rawoof, A. B. (2002). Bietti’s crystalline dystrophy. Indian journal of ophthalmology, 50(4), 330–332.
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  20. 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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  21. Mataftsi A, Zografos L, Millá E, Secrétan M, Munier FL.(2004). Bietti’s crystalline corneoretinal dystrophy: a cross-sectional study. Retina;24:416–426.
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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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
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  30. 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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  31. 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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  32. Atmaca, L., Muftuoglu, O. & Atmaca-Sonmez, P. (2007). Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. Eye 21, 839–842
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  33. 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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  34. 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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  35. 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.
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  36. 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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  37. 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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  38. 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.
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  39. 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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  40. Nakano M, Kelly EJ, Rettie AE. (2009). Expression and characterization of CYP4V2 as a fatty acid ω-hydroxylase. Drug Metab Dispos;37:2119–2122.
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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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  48. Furusato, E., Cameron, J. D., & Chan, C. C. (2010). Evolution of Cellular Inclusions in Bietti’s Crystalline Dystrophy. Ophthalmology and eye diseases, 2010(2), 9–15.
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  49. Gupta, B., Parvizi, S., & Mohamed, M. D. (2011). Bietti crystalline dystrophy and choroidal neovascularisation. International ophthalmology, 31(1), 59–61.
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  50. 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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  51. Kelly, E. J., Nakano, M., Rohatgi, P., Yarov-Yarovoy, V., & Rettie, A. E. (2011). Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states. Molecular interventions, 11(2), 124–132.
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  52. Sen P, Ray R, Ravi P. (2011). Electrophysiological findings in Bietti’s crystalline dystrophy. Clin Exp Optom;94:302–308.
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  53. 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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  54. 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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  55. 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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  56. 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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  57. 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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  58. Xu, F., Sui, R. F., & Dong, F. T. (2012). Progress in the studies of molecular genetics in Bietti crystalline corneoretinal dystrophy. Chinese journal of ophthalmology, 48(10), 948–951.
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  59. 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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  60. Nakano M, Kelly EJ, Wiek C, Hanenberg H, Rettie AE. (2012). CYP4V2 in Bietti’s crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant. Mol Pharmacol. 82:679–686.
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  61. 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
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  62. 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.
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  63. 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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  64. 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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  65. 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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  66. 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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  67. 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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  68. 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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  69. 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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  70. Fu Q, Wang F, Wang H, Xu F, Zaneveld JE, et al. (2013) Next-generation sequencing- based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 54: 4158-4166.
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  71. 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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  72. 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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  73. 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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  74. 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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  75. 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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  76. 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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  77. Lockhart CM, Nakano M, Rettie AE, Kelly EJ. (2014). Generation and characterization of a murine model of Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci;55:5572–5581.
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  78. 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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  79. Osman Saatci A, Can Doruk H. (2014). An Overview of Rare and Unusual Clinical Features of Bietti’s Crystalline Dystrophy. Med Hypothesis Discov Innov Ophthalmol;3(2):51–56.
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  80. 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.
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  81. 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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  82. 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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  83. Brar VS, Benson WH. (2015). Infrared imaging enhances retinal crystals in Bietti’s crystalline dystrophy. Clin Ophthalmol;9:645-8.
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  84. 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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  85. 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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  86. 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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  87. 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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  88. 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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  89. 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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  90. 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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  91. 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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  92. 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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  93. 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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  94. 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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  95. Ng DS, Lai TY, Ng TK, et al. (2016). Genetics of Bietti crystalline dystrophy. Asia Pac J Ophthalmol;4:245–252.
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  96. 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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  97. 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.
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  98. Nourinia R, Dehghan MH, Fekri S. (2017). Outcome of macular hole surgery in Bietti crystalline dystrophy. J Ophthalmic Vis Res;12(3):338–341.
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  99. Katagiri S, Hayashi T, Gekka T, Tsuneoka H. (2017). A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype. Ophthalmic Genet;38(3):286–287.
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  100. 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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  101. 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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  102. 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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  103. Abeshi A, Bruson A, Beccari T, et al. (2017). Genetic testing for Bietti crystalline dystrophy. Eurobiotech J;1:564–615.
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  104. 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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  105. 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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  106. Kumar V, Gadkar A.(2018). Multimodal imaging of Bietti’s crystalline dystrophy. Indian J Ophthalmol;66(7):1024–1026.
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  107. 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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  108. 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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  109. Hata M, Ikeda HO, Iwai S, et al. (2018). Reduction of lipid accumulation rescues Bietti’s crystalline dystrophy phenotypes. Proc Natl Acad Sci USA;115:3936–3941.
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  110. 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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  111. 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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  112. 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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