Over 120 BCD-related papers are included
(last updated on 2023/02/27)
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.
Bagolini B, Ioli-Spada G. (1968). Bietti’s tapetoretinal degeneration with marginal corneal dystrophy. Am J Ophthalmol. 65:53–60.
https://www.ajo.com/article/0002-9394(68)91028-3/abstract
Welch RB. (1977). Bietti’s tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. Trans Am Ophthalmol Soc.; 75:164–179.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1311548/
Francois, J., & De Laey, J. J. (1978). Bietti’s crystalline fundus dystrophy. Annals of ophthalmology, 10(6), 709–716.
https://pubmed.ncbi.nlm.nih.gov/677651/
Weber, U., Owczarek, J., Kluxen, G., & Bernsmeier, H. (1983). Klinischer Verlauf bei Biettischer kristalliner tapetoretinaler Degeneration . Klinische Monatsblatter fur Augenheilkunde, 183(4), 259–261.
https://doi.org/10.1055/s-2008-1054915
Yuzawa M, Mae Y, Matsui M.(1986). Bietti’s crystalline retinopathy. Ophthalmic Paediatr Genet;7:9–20.
https://www.ncbi.nlm.nih.gov/pubmed/3703493
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.
https://doi.org/10.1136/bjo.71.3.220
Wilson DJ, Weleber RG, Klein ML, et al. (1989). Bietti’s crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol;107:213–221.
https://www.ncbi.nlm.nih.gov/pubmed/2783846
Giuffre G. (1991). Progression de la dystrophie cristalline de Bietti . Journal francais d’ophtalmologie, 14(4), 249–254.
https://pubmed.ncbi.nlm.nih.gov/1955652/
Bernauer, W., & Daicker, B. (1992). Bietti’s corneal-retinal dystrophy. A 16-year progression. Retina (Philadelphia, Pa.), 12(1), 18–20.
https://pubmed.ncbi.nlm.nih.gov/1565865/
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
https://www.ncbi.nlm.nih.gov/pubmed/7977570
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.
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.
https://www.ncbi.nlm.nih.gov/pubmed/11530054
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
http://iovs.arvojournals.org/article.aspx?articleid=2200007
Nadim, F., Walid, H., & Adib, J. (2001). The differential diagnosis of crystals in the retina. International ophthalmology, 24(3), 113–121.
https://doi.org/10.1023/a:1021189215498
Sánchez Vicente, J. L., Herrador Montiel, A., Díez-Garretas, C., & Guiote Linares, J.R. (2001). Distrofia cristalina de Bietti. Progresión durante 5 años . Archivos de la Sociedad Espanola de Oftalmologia, 76(5), 323–326.
https://pubmed.ncbi.nlm.nih.gov/11373710/
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.
https://www.ncbi.nlm.nih.gov/pubmed/12422917
Sahu, D. K., & Rawoof, A. B. (2002). Bietti’s crystalline dystrophy. Indian journal of ophthalmology, 50(4), 330–332.
https://pubmed.ncbi.nlm.nih.gov/12532504/
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.
https://bjo.bmj.com/content/87/4/509
Mataftsi A, Zografos L, Millá E, Secrétan M, Munier FL.(2004). Bietti’s crystalline corneoretinal dystrophy: a cross-sectional study. Retina;24:416–426.
https://www.ncbi.nlm.nih.gov/pubmed/15187665
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.
https://www.ncbi.nlm.nih.gov/pubmed/15453864
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181977/
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.
https://iovs.arvojournals.org/article.aspx?articleid=2182296
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.
https://www.ncbi.nlm.nih.gov/pubmed/16088246
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.
https://www.ncbi.nlm.nih.gov/pubmed/15860296
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1736086/
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.
https://www.ncbi.nlm.nih.gov/pubmed/16179904
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
https://link.springer.com/chapter/10.1007%2F0-387-32442-9_8
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.
https://www.ncbi.nlm.nih.gov/pubmed/17013694
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.
http://iovs.arvojournals.org/article.aspx?articleid=2183706
Atmaca, L., Muftuoglu, O. & Atmaca-Sonmez, P. (2007). Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. Eye 21, 839–842
https://doi.org/10.1038/sj.eye.6702673
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.
https://www.ncbi.nlm.nih.gov/pubmed/17287670
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.
https://doi.org/10.1177/112067210701700434
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.
https://doi.org/10.1097/01.iae.0000231361.12567.84
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.
https://www.ncbi.nlm.nih.gov/pubmed/?term=Novel+CYP4V2+gene+mutation+in+a+Mexican+patient+with+Bietti%27s+crystalline+corneoretinal+dystrophy
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
http://citeseerx.ist.psu.edu/viewdoc/download?doi=10.1.1.824.3683&rep=rep1&type=pdf
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769337/
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.
https://www.ncbi.nlm.nih.gov/pubmed/18854949
Nakano M, Kelly EJ, Rettie AE. (2009). Expression and characterization of CYP4V2 as a fatty acid ω-hydroxylase. Drug Metab Dispos;37:2119–2122.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774980/
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.
https://doi.org/10.1097/ICB.0b013e3181780832
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
https://www.healio.com/ophthalmology/journals/osli/2011-11-42-6/%7B1e89cb28-4196-4749-af86-dc9c62dff7b1%7D/in-vivo-visualization-of-retinal-crystals-in-biettis-crystalline-dystrophy-by-spectral-domain-optical-coherence-tomography
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.
http://iovs.arvojournals.org/article.aspx?articleid=2126401
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.
https://www.ncbi.nlm.nih.gov/pubmed/20299976
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.
https://www.ncbi.nlm.nih.gov/pubmed/19508456
Pennesi ME, Weleber RG. (2010). High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina;30:531–532.
https://www.ncbi.nlm.nih.gov/pubmed/20139800
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.
https://www.ncbi.nlm.nih.gov/pubmed/20099228
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3045089/
Gupta, B., Parvizi, S., & Mohamed, M. D. (2011). Bietti crystalline dystrophy and choroidal neovascularisation. International ophthalmology, 31(1), 59–61.
https://doi.org/10.1007/s10792-010-9406-8
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.
https://doi.org/10.3109/13816810.2011.559653
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.
https://doi.org/10.1124/mi.11.2.10
Sen P, Ray R, Ravi P. (2011). Electrophysiological findings in Bietti’s crystalline dystrophy. Clin Exp Optom;94:302–308.
https://onlinelibrary.wiley.com/doi/full/10.1111/j.1444-0938.2011.00602.x
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214674/
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.
https://www.ncbi.nlm.nih.gov/pubmed/?term=Identification+of+CYP4V2+mutation+in+21+families+and+overview+of+mutation+spectrum+in+Bietti+crystalline+corneoretinal+dystrophy.
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.
https://www.ncbi.nlm.nih.gov/pubmed/21803923
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154135/
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.
https://doi.org/10.1007/s10633-011-9274-1
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.
https://pubmed.ncbi.nlm.nih.gov/23302251/
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.
https://doi.org/10.4103/0301-4738.95873
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463217/
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
https://jamanetwork.com/journals/jamaophthalmology/fullarticle/1390051
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351416/
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.
https://www.ncbi.nlm.nih.gov/pubmed/21892605
Parravano M, Sciamanna M, Giorno P, Boninfante A, Varano M. (2012). Bietti crystalline dystrophy: a morpho-functional evaluation. Doc Ophthalmol;124(1):73–77.
https://www.ncbi.nlm.nih.gov/pubmed/22205354
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.
https://www.ncbi.nlm.nih.gov/pubmed/23793346
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.
https://www.ncbi.nlm.nih.gov/pubmed/23538635
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.
https://onlinelibrary.wiley.com/doi/full/10.1111/j.1444-0938.2012.00784.x
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3582089/
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.
https://www.ncbi.nlm.nih.gov/pubmed/?term=A+novel+mutation+in+the+CYP4V2+gene+in+a+Chinese+patient+with+Bietti%27s+crystalline+dystrophy.
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684217/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945441/
Saatci AO, Doruk HC, Yaman A, Öner FH. (2014). Spectral domain optical coherence tomographic findings of Bietti crystalline dystrophy. J Ophthalmol;2014:1–5.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258374/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287718/
Broadhead GK, Chang AA. (2014). Acetazolamide for cystoid macular oedema in Bietti crystalline retinal dystrophy. Korean J Ophthalmol;28(2):189–191.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3958638/
Ali Osman Saatci , Hasan Can Doruk, Aylin Yaman (2014). Cystoid Macular Edema in Bietti’s Crystalline Retinopathy. Case Reports in Ophthalmological Medicine. Vol 2014
https://www.hindawi.com/journals/criopm/2014/964892/
Halford S, Liew G, Mackay DS, et al. (2014). Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy. Ophthalmology;121:1174–1184
https://www.ncbi.nlm.nih.gov/pubmed/24480711
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4160072/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3989252/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4346678/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167809/
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.
https://doi.org/10.1097/ICB.0000000000000022
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.
https://www.ncbi.nlm.nih.gov/pubmed/25978730
Brar VS, Benson WH. (2015). Infrared imaging enhances retinal crystals in Bietti’s crystalline dystrophy. Clin Ophthalmol;9:645-8.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404870/
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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458647/
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.
https://synapse.koreamed.org/DOIx.php?id=10.3341/jkos.2015.56.7.1141
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
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299712/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549705/
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.
https://doi.org/10.3892/etm.2015.2716
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.
https://doi.org/10.1016/j.ajo.2015.10.018
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4742652/
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
https://www.jceionline.org/download/bietti-crystalline-retinal-dystrophy-a-case-report-3748.pdf
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5076297/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149010/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869135/
Ng DS, Lai TY, Ng TK, et al. (2016). Genetics of Bietti crystalline dystrophy. Asia Pac J Ophthalmol;4:245–252.
https://www.ncbi.nlm.nih.gov/pubmed/27228076
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.
https://www.ncbi.nlm.nih.gov/pubmed/26971461
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.
https://doi.org/10.1167/iovs.17-21515
Nourinia R, Dehghan MH, Fekri S. (2017). Outcome of macular hole surgery in Bietti crystalline dystrophy. J Ophthalmic Vis Res;12(3):338–341.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525505/
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.
https://www.ncbi.nlm.nih.gov/pubmed/27348340
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.
https://www.ncbi.nlm.nih.gov/pubmed/28453600
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386409/
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.
https://www.ncbi.nlm.nih.gov/pubmed/27658286
Abeshi A, Bruson A, Beccari T, et al. (2017). Genetic testing for Bietti crystalline dystrophy. Eurobiotech J;1:564–615.
https://www.degruyter.com/downloadpdf/j/ebtj.2017.1.issue-s1/10-24190-ISSN2564-615X-2017-S1-06/10-24190-ISSN2564-615X-2017-S1-06.pdf
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.
https://www.ncbi.nlm.nih.gov/pubmed/28097764
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.
http://www.journalijar.com/article/23356/aclinical-and-genetic-features-in-chinese-bietti-crystalline-dystrophy-(bcd)-families-with-cyp4v2-mutations/
Kumar V, Gadkar A.(2018). Multimodal imaging of Bietti’s crystalline dystrophy. Indian J Ophthalmol;66(7):1024–1026.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032734/
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
https://onlinelibrary.wiley.com/doi/full/10.1111/aos.13768
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208130/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899444/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204257/
Oishi A, Oishi M, Miyata M, et al. (2018). Multimodal imaging for differential diagnosis of Bietti crystalline dystrophy. Ophthalmol Retina;2(10):1071–1077
https://www.ncbi.nlm.nih.gov/pubmed/31047497
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.
https://www.ncbi.nlm.nih.gov/pubmed/29197825
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.
https://doi.org/10.1097/ICB.0000000000000792
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.
https://doi.org/10.1080/13816810.2019.1666416
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.
https://doi.org/10.4274/tjo.galenos.2018.90768
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679682/
Kobat SG, Gul FC, Yusufoglu E. (2019). Bietti crystalline dystrophy and choroidal neovascularization in childhood. Int J Ophthalmol;12(9):1514-1516
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739574/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611930/
Roth, B., Weng, C. (2019). Spotlight Case: Two Sparkling Retinas. American Society of Retina Specialists.
https://www.asrs.org/education/spotlight-case-two-sparkling-retinas
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747359/
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6828992/
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.
https://doi.org/10.1080/13816810.2019.1678176
Vargas, M., Mitchell, A., Yang, P., & Weleber, R. (2019). Bietti Crystalline Dystrophy. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
https://pubmed.ncbi.nlm.nih.gov/22497028/?from_from_uid=285440&from_linkname=gene_pubmed&from_page=3&from_pos=4
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.
https://www.ncbi.nlm.nih.gov/pubmed/32281452
Meng Xiaohong (2015). Research on the genetics and clinical characteristics of the Chinese Bietti crystalline corneoretinal dystrophy. http://cnki.sris.com.tw/KCMS/detail/detail.aspx?filename=1015626343.nh&dbcode=CDFD&dbname=CDFD2016
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. https://doi.org/10.1016/j.ymthe.2020.07.024
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.
https://doi.org/10.1002/mgg3.1131
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. https://doi.org/10.1038/s41434-020-0159-3
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. https://doi.org/10.1111/ceo.13708
Ameri H, Su E, Dowd-Schoeman TJ Autofluorescence of choroidal vessels in Bietti’s crystalline dystrophyBMJ Open Ophthalmology 2020;5:e000592.
https://bmjophth.bmj.com/content/5/1/e000592
Wang, W., Chen, W., Bai, X. et al. Multimodal imaging features and genetic findings in Bietti crystalline dystrophy. BMC Ophthalmol 20, 331 (2020).
https://doi.org/10.1186/s12886-020-01545-3
Zhang Zhimeng, Li Genlin. Research Progress in Bietti crystalline corneoretinal dystrophy. 2018,36 (7): 559-563.
http://rs.yiigle.com/CN115989201807/1051567.htm
Mainguy, A., Lebranchu, P., Weber, M., Ducloyer, J. B., & Le Meur, G. (2020). Une présentation tardive de maladie de Bietti . Journal francais d’ophtalmologie, 43(10), 1109–1110. https://doi.org/10.1016/j.jfo.2019.12.031
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.
https://doi.org/10.3760/cma.j.cn511374-20200301-00117
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7860191/
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. https://doi.org/10.1016/j.oret.2021.02.009
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945660/
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
https://doi.org/10.1097/IAE.0000000000003182
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.
https://www.sciencedirect.com/science/article/pii/S1873506121001768?via%3Dihub
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.
https://doi.org/10.1016/j.gene.2021.145698
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8161580/
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151499/
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342298/
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. https://doi.org/10.1242/dmm.049222
Hanany M, Yang R.R., Lam C.M., 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, https://doi.org/10.1167/tvst.12.2.27
Yang, R.R. A patient advocating for transparent science in rare disease research. Orphanet J Rare Dis 18, 14 (2023). https://doi.org/10.1186/s13023-022-02557-6
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11039457/
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. https://insight.jci.org/articles/view/177231