BCD Literature List

BCD is an often-misdiagnosed retinal disease.
BCD is an often-misdiagnosed retinal disease
About BCD BCD Literature List BCD Prevalence BCD Misdiagnosis and Underdiagnosis BCD Around the World

BCD Literature List

More than 140 papers have been published on BCD or reported BCD patients (including RP or IRD patients with CYP4V2 mutations) in different parts of the world.

  1.  
  2. 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
    *No abstract and full text available
  3. Bagolini B, Ioli-Spada G. (1968). Bietti’s tapetoretinal degeneration with marginal corneal dystrophy. Am J Ophthalmol. 65:53–60.
    View Paper
  4. Welch RB. (1977). Bietti’s tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. Trans Am Ophthalmol Soc.; 75:164–179.
    View Paper
  5. Francois, J., & De Laey, J. J. (1978). Bietti’s crystalline fundus dystrophy. Annals of ophthalmology, 10(6), 709–716.
    View Paper
  6. 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.
    View Paper
  7. Yuzawa M, Mae Y, Matsui M.(1986). Bietti’s crystalline retinopathy. Ophthalmic Paediatr Genet;7:9–20.
    View Paper
  8. 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
  9. Wilson DJ, Weleber RG, Klein ML, et al. (1989). Bietti’s crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol;107:213–221.
    View Paper
  10. 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
  11. Bernauer, W., & Daicker, B. (1992). Bietti’s corneal-retinal dystrophy. A 16-year progression. Retina (Philadelphia, Pa.), 12(1), 18–20.
    View Paper
  12. 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
  13. 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.
    View Paper
  14. 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.
    View Paper
  15. 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
  16. 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
    View Paper
  17. Nadim, F., Walid, H., & Adib, J. (2001). The differential diagnosis of crystals in the retina. International ophthalmology, 24(3), 113–121. View Paper
  18. 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
  19. 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.
    View Paper
  20. Sahu, D. K., & Rawoof, A. B. (2002). Bietti’s crystalline dystrophy. Indian journal of ophthalmology, 50(4), 330–332.
    View Paper
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. Atmaca, L., Muftuoglu, O. & Atmaca-Sonmez, P. (2007). Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. Eye 21, 839–842
    View Paper
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. Nakano M, Kelly EJ, Rettie AE. (2009). Expression and characterization of CYP4V2 as a fatty acid ω-hydroxylase. Drug Metab Dispos;37:2119–2122.
    View Paper
  42. 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
  43. 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
  44. 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
  45. 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
  46. 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
  47. Pennesi ME, Weleber RG. (2010). High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina;30:531–532.
    View Paper
  48. 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
  49. 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.
    View Paper
  50. Gupta, B., Parvizi, S., & Mohamed, M. D. (2011). Bietti crystalline dystrophy and choroidal neovascularisation. International ophthalmology, 31(1), 59–61. View Paper
  51. 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
  52. 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.
    View Paper
  53. Sen P, Ray R, Ravi P. (2011). Electrophysiological findings in Bietti’s crystalline dystrophy. Clin Exp Optom;94:302–308.
    View Paper
  54. 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
  55. 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
  56. 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
  57. 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
  58. 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
  59. 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.
    View Paper
  60. 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
  61. 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.
    View Paper
  62. 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
  63. 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
  64. 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
  65. 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
  66. 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
  67. 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
  68. 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
  69. 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
  70. 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
  71. 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.
    View Paper
  72. 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
  73. 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
  74. 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
  75. Broadhead GK, Chang AA. (2014). Acetazolamide for cystoid macular oedema in Bietti crystalline retinal dystrophy. Korean J Ophthalmol;28(2):189–191. View Paper
  76. 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
  77. Halford S, Liew G, Mackay DS, et al. (2014). Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy. Ophthalmology;121:1174–1184 View Paper
  78. 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.
    View Paper
  79. 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
  80. 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.
    View Paper
  81. 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
  82. 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
  83. 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
  84. Brar VS, Benson WH. (2015). Infrared imaging enhances retinal crystals in Bietti’s crystalline dystrophy. Clin Ophthalmol;9:645-8. View Paper
  85. 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
  86. 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
  87. 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
  88. 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
  89. 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
  90. 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
  91. 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
  92. 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
  93. 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
  94. 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
  95. 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
  96. Ng DS, Lai TY, Ng TK, et al. (2016). Genetics of Bietti crystalline dystrophy. Asia Pac J Ophthalmol;4:245–252.
    View Paper
  97. 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
  98. 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
  99. 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
  100. 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.
    View Paper
  101. 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
  102. 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
  103. 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
  104. Abeshi A, Bruson A, Beccari T, et al. (2017). Genetic testing for Bietti crystalline dystrophy. Eurobiotech J;1:564–615.
    View Paper
  105. 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
  106. 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
  107. Kumar V, Gadkar A.(2018). Multimodal imaging of Bietti’s crystalline dystrophy. Indian J Ophthalmol;66(7):1024–1026. View Paper
  108. 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
  109. 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
  110. 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.
    View Paper
  111. 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
  112. 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
  113. 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
  114. 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
  115. 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
  116. 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
  117. García-García, G. P., Martínez-Rubio, M., Moya-Moya, M. A., Pérez-Santonja, J. J., & Escribano, J. (2019). Current perspectives in Bietti crystalline dystrophy. Clinical ophthalmology, 13:1379–1399. View Paper
  118. Kobat SG, Gul FC, Yusufoglu E. (2019). Bietti crystalline dystrophy and choroidal neovascularization in childhood. Int J Ophthalmol;12(9):1514-1516
    View Paper
  119. 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
  120. Roth, B., Weng, C. (2019). Spotlight Case: Two Sparkling Retinas. American Society of Retina Specialists.
    View Paper
  121. Jarrar YB, Lee SJ. (2019). Molecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical Implications. Int J Mol Sci;20(17):4274.
    View Paper
  122. 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
  123. 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
  124. Vargas M, Mitchell A, Yang P, et al. Bietti Crystalline Dystrophy. 2012 Apr 12 [Updated 2019 Feb 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
    View Paper
  125. 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
  126. Meng Xiaohong (2015). Research on the genetics and clinical characteristics of the Chinese Bietti crystalline corneoretinal dystrophy. View Paper
  127. Zhang, Z., Yan, B., Gao, F., Li, Q., Meng, X., Chen, P., Zhou, L., Deng, W., Li, C., Xu, W., Han, S., Feng, H., Li, Y., Chen, J., Yin, Z., Liao, C., Tse, H. F., Xu, A., & Lian, Q. (2020). PSCs Reveal PUFA-Provoked Mitochondrial Stress as a Central Node Potentiating RPE Degeneration in Bietti’s Crystalline Dystrophy. Molecular therapy : the journal of the American Society of Gene Therapy, 28(12), 2642–2661. View Paper
  128. 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
  129. Qu, B., Wu, S., Jiao, G., Zou, X., Li, Z., Guo, L., Sun, X., Huang, C., Sun, Z., Zhang, Y., Li, H., Zhou, Q., Sui, R., & Li, W. (2020). Treating Bietti crystalline dystrophy in a high-fat diet-exacerbated murine model using gene therapy. Gene therapy, 27(7-8), 370–382. View Paper
  130. 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
  131. Ameri H, Su E, Dowd-Schoeman TJ Autofluorescence of choroidal vessels in Bietti’s crystalline dystrophyBMJ Open Ophthalmology 2020;5:e000592.
    View Paper
  132. 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
  133. Zhang Zhimeng, Li Genlin. Research Progress in Bietti crystalline corneoretinal dystrophy. 2018,36 (7): 559-563.
    View Paper
  134. Mainguy, A., Lebranchu, P., Weber, M., Ducloyer, J. B., & Le Meur, G. (2020). Une présentation tardive de maladie de Bietti [A late onset of Bietty crystalline dystrophy]. Journal francais d’ophtalmologie, 43(10), 1109–1110. View Paper
  135. Xie, Y., Bai, Z., Sun, Z., Gu, L., Zhang, X., & Kong, X. (2020). 两个Bietti结晶样角膜视网膜营养不良家系的表型及CYP4V2基因变异分析 Chinese journal of medical genetics, 37(12), 1340–1343.
    View Paper
  136. 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
  137. 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
  138. 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
  139. 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
  140. 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
  141. 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
  142. 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
  143. 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
  144. Kumar V, Brar V, Prell J, Jewell A, Couser N. Bietti’s crystalline dystrophy in an African American patient: an unusual racial demographic for a condition more common in individuals of East Asian descent. Int J Ophthalmol. 2021 Aug 18;14(8):1291-1292. doi: 10.18240/ijo.2021.08.24. PMID: 34414098; PMCID: PMC8342298. View Paper
  145. Wang, Y., Liu, Y., Liu, S., Li, X., Liu, X., Jiao, M., Yang, Y., Luo, X., Wang, F., Wan, X., & Sun, X. (2022). A novel and efficient murine model of Bietti crystalline dystrophy. Disease models & mechanisms, 15(3), dmm049222. View Paper
  146. Yang, R.R. A patient advocating for transparent science in rare disease research. Orphanet J Rare Dis 18, 14 (2023). View Paper
  147. Hanany M, Yang RR, Lam CM, Beryozkin A, Sundaresan Y, Sharon D. An in-depth single-gene worldwide carrier frequency and genetic prevalence analysis of CYP4V2 as the cause of Bietti crystalline dystrophy. Transl Vis Sci Technol. 2023;12(2):27,View Paper
  148. Wang J, Zhang J, Yu S, Li H, Chen S, Luo J, Wang H, Guan Y, Zhang H, Yin S, Wang H, Li H, Liu J, Zhu J, Yang Q, Sha Y, Zhang C, Yang Y, Yang X, Zhang X, Zhao X, Wang L, Yang L, Wei W. Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial. Signal Transduct Target Ther. 2024 Apr 24;9(1):95. doi: 10.1038/s41392-024-01806-3. PMID: 38653979; PMCID: PMC11039457.View Paper
  149. Li Y, Yang RR, Li YS, Hsu CW, Jenny LA, Kong Y, Ruan MZ, Sparrow JR, Tsang SH. Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy. JCI Insight. 2024 Aug 22;9(16):e177231. doi: 10.1172/jci.insight.177231. PMID: 39171529; PMCID: PMC11343589.View Paper