Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

References

• Bietti G. On the familial occurrence of “retinitis punctata albescens” (associated with “dystrophia marginalis cristallinea cornea)”, glistening, vitreous humor and other degenerative ocular changes. Augenvera¨Nderungen Klin Monatsbl Augenheilkd. 1937;99:737–756.
   Google Scholar
• Welch RB. Bietti’s tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. Trans Am Ophthalmol Soc. 1977;75:164–179.
   PubMedGoogle Scholar
• Osman Saatci A, Can Doruk H. An overview of rare and unusual clinical features of Bietti’s crystalline dystrophy. Med Hypothesis Discov Innov Ophthalmol. 2014;3:51–56.
   PubMedGoogle Scholar
• Bagolini B, Ioli-Spada G. Bietti’s tapetoretinal degeneration with marginal corneal dystrophy. Am J Ophthalmol. 1968;65:53–60. doi:10.1016/0002-9394(68)91028-3
   PubMed Web of Science ®Google Scholar
• Furusato E, Cameron JD, Chan CC. Evolution of cellular inclusions in Bietti’s crystalline dystrophy. Ophthalmol Eye Dis. 2010;2010:9–15. doi:10.4137/OED.S2821
   PubMedGoogle Scholar
• Jiao X, Munier FL, Iwata F, et al. Genetic linkage of Bietti crystalline corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet. 2000;67(5):1309–1313. doi:10.1016/S0002-9297(07)62960-7
   PubMed Web of Science ®Google Scholar
• Li A, Jiao X, Munier FL, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004;74:817–826. doi:10.1086/383228
   PubMed Web of Science ®Google Scholar
• Nakano M, Kelly EJ, Rettie AE. Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase. Drug Metab Dispos. 2009;37:2119–2122. doi:10.1124/dmd.109.028530
   PubMed Web of Science ®Google Scholar
• Lee J, Jiao X, Hejtmancik JF, et al. The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci. 2001;42:1707–1714.
   PubMed Web of Science ®Google Scholar
• Wilson DJ, Weleber RG, Klein ML, Welch RB, Green WR. Bietti’s crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol. 1989;107:213–221. doi:10.1001/archopht.1989.01070010219026
   PubMed Web of Science ®Google Scholar
• The human gene mutation database [homepage on the Internet]. Available from: https://www.hgmd.cf.ac.uk/ac/gene.php?gene=CYP4V2Accessed. Accessed January 10, 2023.
   Google Scholar
• Chan LW, Sung YC, Wu DC, et al. Predicted protein structure variations indicate the clinical presentation of Cyp4v2-related Bietti crystalline dystrophy. Retina. 2022;42:797–806. doi:10.1097/IAE.0000000000003381
   PubMed Web of Science ®Google Scholar
• Ng DS, Lai TY, Ng TK, Pang CP. Genetics of Bietti crystalline dystrophy. Asia Pac J Ophthalmol. 2016;5:245–252. doi:10.1097/APO.0000000000000209
   PubMed Web of Science ®Google Scholar
• Lockhart CM, Smith TB, Yang P, et al. Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2. Br J Ophthalmol. 2018;102:187–194. doi:10.1136/bjophthalmol-2016-309696
   PubMed Web of Science ®Google Scholar
• 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;12:27. doi:10.1167/tvst.12.2.27
   PubMedGoogle Scholar
• Mataftsi A, Zografos L, Milla E, Secretan M, Munier FL. Bietti’s crystalline corneoretinal dystrophy: a cross-sectional study. Retina. 2004;24:416–426. doi:10.1097/00006982-200406000-00013
   PubMed Web of Science ®Google Scholar
• Garcia-Garcia GP, Martinez-Rubio M, Moya-Moya MA, Perez-Santonja JJ, Escribano J. Current perspectives in Bietti crystalline dystrophy. Clin Ophthalmol. 2019;13:1379–1399. doi:10.2147/OPTH.S185744
   PubMed Web of Science ®Google Scholar
• Nakano M, Kelly EJ, Wiek C, Hanenberg H, Rettie AE. CYP4V2 in Bietti’s crystalline dystrophy: ocular localization, metabolism of omega-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant. Mol Pharmacol. 2012;82:679–686. doi:10.1124/mol.112.080085
   PubMed Web of Science ®Google Scholar
• Kaiser-Kupfer MI, Chan CC, Markello TC, et al. Clinical biochemical and pathologic correlations in Bietti’s crystalline dystrophy. Am J Ophthalmol. 1994;118:569–582. doi:10.1016/S0002-9394(14)76572-9
   PubMed Web of Science ®Google Scholar
• Traboulsi EI, Faris BM. Crystalline retinopathy. Ann Ophthalmol. 1987;19:156–158.
   PubMedGoogle Scholar
• Bozkurt B, Ozturk BT, Kerimoglu H, Irkec M, Pekel H. In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy. Cornea. 2010;29:590–593. doi:10.1097/ICO.0b013e3181be22ee
   PubMed Web of Science ®Google Scholar
• Garcia-Garcia GP, Lopez-Garrido MP, Martinez-Rubio M, Moya-Moya MA, Belmonte-Martinez J, Escribano J. Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation. Cornea. 2013;32:1002–1008. doi:10.1097/ICO.0b013e31828a27bc
   PubMed Web of Science ®Google Scholar
• Chung JK, Shin JH, Jeon BR, Ki CS, Park TK. 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. 2013;57:447–450. doi:10.1007/s10384-013-0256-6
   PubMed Web of Science ®Google Scholar
• Yokoi Y, Nakazawa M, Mizukoshi S, Sato K, Usui T, Takeuchi K. Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene. Acta Ophthalmol. 2010;88:607–609. doi:10.1111/j.1755-3768.2009.01529.x
   PubMed Web of Science ®Google Scholar
• Louati Y, Vaclavik V, Moulin A, Schorderet D, Munier FL, Viet Tran H. Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy. Ophthalmic Genet. 2021;42:773–779. doi:10.1080/13816810.2021.1952620
   PubMed Web of Science ®Google Scholar
• Yuzawa M, Mae Y, Matsui M. Bietti’s crystalline retinopathy. Ophthalmic Paediatr Genet. 1986;7:9–20. doi:10.3109/13816818609058037
   PubMed Web of Science ®Google Scholar
• Fong AM, Koh A, Lee K, Ang CL. Bietti’s crystalline dystrophy in Asians: clinical, angiographic and electrophysiological characteristics. Int Ophthalmol. 2009;29:459–470. doi:10.1007/s10792-008-9266-7
   PubMedGoogle Scholar
• Kojima H, Otani A, Ogino K, et al. Outer retinal circular structures in patients with Bietti crystalline retinopathy. Br J Ophthalmol. 2012;96:390–393. doi:10.1136/bjo.2010.199356
   PubMed Web of Science ®Google Scholar
• Gocho K, Kameya S, Akeo K, et al. High-resolution imaging of patients with Bietti crystalline dystrophy with CYP4V2 mutation. J Ophthalmol. 2014;2014:283603. doi:10.1155/2014/283603
   PubMed Web of Science ®Google Scholar
• Ayata A, Tatlipinar S, Unal M, Ersanli D, Bilge AH. Autofluorescence and OCT features of Bietti’s crystalline dystrophy. Br J Ophthalmol. 2008;92:718–720. doi:10.1136/bjo.2008.138958
   PubMed Web of Science ®Google Scholar
• Oishi A, Oishi M, Miyata M, et al. Multimodal imaging for differential diagnosis of Bietti crystalline dystrophy. Ophthalmol Retina. 2018;2:1071–1077. doi:10.1016/j.oret.2018.02.012
   PubMedGoogle Scholar
• Iriyama A, Aihara Y, Yanagi Y. Outer retinal tubulation in inherited retinal degenerative disease. Retina. 2013;33:1462–1465. doi:10.1097/IAE.0b013e31828221ae
   PubMed Web of Science ®Google Scholar
• Halford S, Liew G, Mackay DS, et al. Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy. Ophthalmology. 2014;121:1174–1184. doi:10.1016/j.ophtha.2013.11.042
   PubMed Web of Science ®Google Scholar
• Gupta B, Parvizi S, Mohamed MD. Bietti crystalline dystrophy and choroidal neovascularisation. Int Ophthalmol. 2011;31:59–61. doi:10.1007/s10792-010-9406-8
   PubMedGoogle Scholar
• Atmaca LS, Muftuoglu O, Atmaca-Sonmez P. Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. Eye. 2007;21:839–842. doi:10.1038/sj.eye.6702673
   PubMed Web of Science ®Google Scholar
• Fuerst NM, Serrano L, Han G, et al. Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization. Ophthalmic Genet. 2016;37:445–452. doi:10.3109/13816810.2015.1126616
   PubMed Web of Science ®Google Scholar
• Han XY, Zhang LQ, Tang JY, Huang LZ, Tang R, Qu JF. A novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization. Int J Ophthalmol. 2022;15:940–946. doi:10.18240/ijo.2022.06.11
   PubMed Web of Science ®Google Scholar
• Hua R, Chen K, Hu Y, Wang X, Chen L. Relapse of choroidal neovascularization in Bietti’s crystalline retinopathy following anti-vascular endothelial growth factor therapy: a case report. Exp Ther Med. 2015;10:1704–1706. doi:10.3892/etm.2015.2716
   PubMed Web of Science ®Google Scholar
• Kobat SG, Gul FC, Yusufoglu E. Bietti crystalline dystrophy and choroidal neovascularization in childhood. Int J Ophthalmol. 2019;12:1514–1516. doi:10.18240/ijo.2019.09.24
   PubMed Web of Science ®Google Scholar
• Le Tien V, Atmani K, Querques G, Massamba N, Souied EH. Ranibizumab for subfoveal choroidal neovascularization in Bietti crystalline retinopathy. Eye. 2010;24:1728–1729. doi:10.1038/eye.2010.116
   PubMed Web of Science ®Google Scholar
• Mamatha G, Umashankar V, Kasinathan N, et al. Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization. Mol Vis. 2011;17:1970–1977.
   PubMed Web of Science ®Google Scholar
• Padhi TR, Kesarwani S, Jalali S. Bietti crystalline retinal dystrophy with subfoveal neurosensory detachment and congenital tortuosity of retinal vessels: case report. Doc Ophthalmol. 2011;122:199–206. doi:10.1007/s10633-011-9274-1
   PubMed Web of Science ®Google Scholar
• Saatci AO, Yaman A, Berk AT, Soylev MF. Macular hole formation in Bietti’s crystalline retinopathy. A case report. Ophthalmic Genet. 1997;18:139–141. doi:10.3109/13816819709057127
   PubMed Web of Science ®Google Scholar
• Nourinia R, Dehghan MH, Fekri S. Outcome of macular hole surgery in Bietti crystalline dystrophy. J Ophthalmic Vis Res. 2017;12:338–341. doi:10.4103/jovr.jovr_154_15
   PubMedGoogle Scholar
• Saatci AO, Kayabasi M, Avci R. Asymptomatic unilateral full-thickness macular hole in a patient with Bietti crystalline dystrophy during 13-year follow-up with optical coherence tomography. Turk J Ophthalmol. 2022;52:212–215. doi:10.4274/tjo.galenos.2022.86681
   PubMedGoogle Scholar
• Ji SX, Yin XL, He XG, et al. Bietti crystalline dystrophy with bilateral macular holes. Retin Cases Brief Rep. 2009;3:361–363. doi:10.1097/ICB.0b013e3181780832
   PubMedGoogle Scholar
• Liu Z, Ayton LN, O’Hare F, et al. Intereye symmetry in Bietti crystalline dystrophy. Am J Ophthalmol. 2022;235:313–325. doi:10.1016/j.ajo.2021.07.009
   PubMed Web of Science ®Google Scholar
• Sparrow JR, Duncker T. Fundus autofluorescence and RPE lipofuscin in age-related macular degeneration. J Clin Med. 2014;3:1302–1321. doi:10.3390/jcm3041302
   PubMedGoogle Scholar
• Huang CY, Kang EY, Yeh LK, et al. Predicting visual acuity in Bietti crystalline dystrophy: evaluation of image parameters. BMC Ophthalmol. 2021;21:68. doi:10.1186/s12886-021-01811-y
   PubMed Web of Science ®Google Scholar
• Saatci AO, Yaman A, Oner FH, Ergin MH, Cingil G. Indocyanine green angiography in Bietti’s crystalline retinopathy. Can J Ophthalmol. 2002;37:346–351. doi:10.1016/S0008-4182(02)80005-9
   PubMed Web of Science ®Google Scholar
• Salati C, Lafaut BA, Stevens A, De Laey JJ, Kestelyn P. Indocyanine green angiography in a case of Bietti’s disease. Retina. 1998;18:82–84. doi:10.1097/00006982-199818010-00019
   PubMed Web of Science ®Google Scholar
• Pennesi ME, Weleber RG. High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina. 2010;30:531–532. doi:10.1097/IAE.0b013e3181c96a15
   PubMed Web of Science ®Google Scholar
• Querques G, Quijano C, Bouzitou-Mfoumou R, Soubrane G, Souied EH. In-vivo visualization of retinal crystals in Bietti’s crystalline dystrophy by spectral domain optical coherence tomography. Ophthalmic Surg Lasers Imaging. 2010;41:1–3.
   Google Scholar
• Toto L, Carpineto P, Parodi MB, Di Antonio L, Mastropasqua A, Mastropasqua L. Spectral domain optical coherence tomography and in vivo confocal microscopy imaging of a case of Bietti’s crystalline dystrophy. Clin Exp Optom. 2013;96:39–45. doi:10.1111/j.1444-0938.2012.00784.x
   PubMed Web of Science ®Google Scholar
• Yin H, Jin C, Fang X, et al. Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. PLoS One. 2014;9:e94960. doi:10.1371/journal.pone.0094960
   PubMed Web of Science ®Google Scholar
• Braimah IZ, Dumpala S, Chhablani J. Outer retinal tubulation in retinal dystrophies. Retina. 2017;37:578–584. doi:10.1097/IAE.0000000000001220
   PubMed Web of Science ®Google Scholar
• Li Q, Li Y, Zhang X, et al. Utilization of fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging in the characterization of Bietti crystalline dystrophy in different stages. Retina. 2015;35:2074–2084. doi:10.1097/IAE.0000000000000592
   PubMed Web of Science ®Google Scholar
• Saatci AO, Doruk HC, Yaman A, Oner FH. Spectral domain optical coherence tomographic findings of bietti crystalline dystrophy. J Ophthalmol. 2014;2014:739271. doi:10.1155/2014/739271
   PubMed Web of Science ®Google Scholar
• Wang Y, Chen J, Sun J, et al. Outer retinal tubulation in Bietti crystalline dystrophy associated with the retinal pigment epithelium atrophy. Retina. 2022. doi:10.1097/IAE.0000000000003697
   Web of Science ®Google Scholar
• Spaide RF, Curcio CA. Drusen characterization with multimodal imaging. Retina. 2010;30(9):1441–1454. doi:10.1097/IAE.0b013e3181ee5ce8
   PubMed Web of Science ®Google Scholar
• Zerbib J, Ores R, Querques G, Bouzitou-Mfoumou R, Souied EH. Choroidal findings in Bietti’s crystalline dystrophy. Retin Cases Brief Rep. 2014;8:130–131. doi:10.1097/ICB.0000000000000022
   PubMedGoogle Scholar
• Kovach JL, Isildak H, Sarraf D. Crystalline retinopathy: unifying pathogenic pathways of disease. Surv Ophthalmol. 2019;64:1–29. doi:10.1016/j.survophthal.2018.08.001
   PubMed Web of Science ®Google Scholar
• Kumar V, Gadkar A. Multimodal imaging of Bietti’s crystalline dystrophy. Indian J Ophthalmol. 2018;66:1024–1026. doi:10.4103/ijo.IJO_39_18
   PubMed Web of Science ®Google Scholar
• Atas F, Kayabasi M, Saatci AO. Vessel density and choroidal vascularity index in patients with Bietti crystalline dystrophy and retinitis pigmentosa. Photodiagnosis Photodyn Ther. 2022;40:103181. doi:10.1016/j.pdpdt.2022.103181
   PubMed Web of Science ®Google Scholar
• Hirashima T, Miyata M, Ishihara K, et al. Choroidal vasculature in Bietti crystalline dystrophy with CYP4V2 mutations and in retinitis pigmentosa with EYS mutations. Invest Ophthalmol Vis Sci. 2017;58:3871–3878. doi:10.1167/iovs.17-21515
   PubMed Web of Science ®Google Scholar
• Miyata M, Oishi A, Hasegawa T, et al. Choriocapillaris flow deficit in Bietti crystalline dystrophy detected using optical coherence tomography angiography. Br J Ophthalmol. 2018;102:1208–1212. doi:10.1136/bjophthalmol-2017-311313
   PubMed Web of Science ®Google Scholar
• Zhang SJ, Wang LF, Xiao Z, et al. Analysis of radial peripapillary capillary density in patients with Bietti crystalline dystrophy by optical coherence tomography angiography. Biomed Environ Sci. 2022;35:107–114. doi:10.3967/bes2022.015
   PubMed Web of Science ®Google Scholar
• Montemagni M, Arrigo A, Battaglia Parodi M, et al. Optical coherence tomography angiography in Bietti crystalline dystrophy. Eur J Ophthalmol. 2022:11206721221143156. doi:10.1177/11206721221143156
   Google Scholar
• Ipek SC, Ayhan Z, Kadayifcilar S, Saatci AO. Swept-source optical coherence tomography angiography in a patient with Bietti crystalline dystrophy followed for ten years. Turk J Ophthalmol. 2019;49:106–108. doi:10.4274/tjo.galenos.2018.90768
   PubMedGoogle Scholar
• Lee KY, Koh AH, Aung T, et al. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci. 2005;46:3812–3816. doi:10.1167/iovs.05-0378
   PubMed Web of Science ®Google Scholar
• Mansour AM, Uwaydat SH, Chan CC. Long-term follow-up in Bietti crystalline dystrophy. Eur J Ophthalmol. 2007;17:680–682. doi:10.1177/112067210701700434
   PubMed Web of Science ®Google Scholar
• Usui T, Tanimoto N, Takagi M, Hasegawa S, Abe H. Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol. 2001;132:395–402. doi:10.1016/S0002-9394(01)00963-1
   PubMed Web of Science ®Google Scholar
• Rossi S, Testa F, Li A, et al. An atypical form of Bietti crystalline dystrophy. Ophthalmic Genet. 2011;32:118–121. doi:10.3109/13816810.2011.559653
   PubMed Web of Science ®Google Scholar
• Vargas M, Mitchell A, Yang P, et al. Bietti crystalline dystrophy. In: Adam MP, Everman DB, Mirzaa GM, editors. Genereviews((R)). Seattle (WA): Seattle; 1993.
   Google Scholar
• Battu R, Akkali MC, Bhanushali D, et al. Adaptive optics imaging of the outer retinal tubules in Bietti’s crystalline dystrophy. Eye. 2016;30:705–712. doi:10.1038/eye.2016.22
   PubMed Web of Science ®Google Scholar
• Iacono P, Da Pozzo S, Papayannis A, Romano F, Arrigo A, Parodi MB. Dystrophy-related choroidal neovascularization. In: Chhablani J, editor. Choroidal Neovascularization. Singapore: Springer Singapore; 2020:139–149.
   Google Scholar
• Marano F, Deutman AF, Leys A, Aandekerk AL. Hereditary retinal dystrophies and choroidal neovascularization. Graefes Arch Clin Exp Ophthalmol. 2000;238:760–764. doi:10.1007/s004170000186
   PubMed Web of Science ®Google Scholar
• Battaglia Parodi M, Iacono P, Bandello F. Antivascular endothelial growth factor in hereditary dystrophies. Dev Ophthalmol. 2010;46:107–110.
   PubMedGoogle Scholar
• Lai TYY, Staurenghi G, Lanzetta P, et al. Efficacy and safety of ranibizumab for the treatment of choroidal neovascularization due to uncommon cause: twelve-month results of the MINERVA study. Retina. 2018;38:1464–1477. doi:10.1097/IAE.0000000000001744
   PubMed Web of Science ®Google Scholar
• Wang W, Chen W, Bai X, Chen L. Multimodal imaging features and genetic findings in Bietti crystalline dystrophy. BMC Ophthalmol. 2020;20:331. doi:10.1186/s12886-020-01545-3
   PubMed Web of Science ®Google Scholar
• Nachiappan K, Krishnan T, Madhavan J. Ranibizumab for choroidal neovascular membrane in a rare case of Bietti’s crystalline dystrophy: a case report. Indian J Ophthalmol. 2012;60:207–209. doi:10.4103/0301-4738.95873
   PubMed Web of Science ®Google Scholar
• Kayabaşı M, Ataş F, Saatci AO. Unilateral macular neovascularization formation during the follow-up of a 15-year-old boy with Bietti crystalline dystrophy and the successful treatment outcome with a single intravitreal ranibizumab injection. GMS Ophthalmol Cases. 2023;13:Doc06.
   PubMedGoogle Scholar
• LI Q, ZHANG S, KANG L, et al. Characterization of macular neovascularization in Bietti’s crystalline dystrophy using multimodal imaging modalities. Retina. 2022. doi:10.1097/IAE.0000000000003695
   Web of Science ®Google Scholar
• Gaudric A, Audo I, Vignal C, et al. Non-vasogenic cystoid maculopathies. Prog Retin Eye Res. 2022;91:101092. doi:10.1016/j.preteyeres.2022.101092
   PubMed Web of Science ®Google Scholar
• Saatci AO, Doruk HC, Yaman A. Cystoid macular edema in Bietti’s crystalline retinopathy. Case Rep Ophthalmol Med. 2014;2014:964892. doi:10.1155/2014/964892
   PubMedGoogle Scholar
• Broadhead GK, Chang AA. Acetazolamide for cystoid macular oedema in Bietti crystalline retinal dystrophy. Korean J Ophthalmol. 2014;28:189–191. doi:10.3341/kjo.2014.28.2.189
   PubMedGoogle Scholar
• Khojasteh H, Roohipoor R, Riazi-Esfahani H, Ghasempour M. Topical dorzolamide for cystoid macular edema in Bietti crystalline retinal dystrophy. Retin Cases Brief Rep. 2021;15:306–309. doi:10.1097/ICB.0000000000000792
   PubMedGoogle Scholar
• Liew G, Moore AT, Webster AR, Michaelides M. Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2015;56:1531–1536. doi:10.1167/iovs.14-15995
   PubMed Web of Science ®Google Scholar
• Bringmann A, Unterlauft JD, Barth T, Wiedemann R, Rehak M, Wiedemann P. Muller cells and astrocytes in tractional macular disorders. Prog Retin Eye Res. 2022;86:100977. doi:10.1016/j.preteyeres.2021.100977
   PubMed Web of Science ®Google Scholar
• Bazvand F, Asadi Khameneh E. Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report. J Med Case Rep. 2022;16:413. doi:10.1186/s13256-022-03581-7
   PubMedGoogle Scholar
• Lockhart CM, Nakano M, Rettie AE, Kelly EJ. Generation and characterization of a murine model of Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci. 2014;55:5572–5581. doi:10.1167/iovs.13-13717
   PubMed Web of Science ®Google Scholar
• Qu B, Wu S, Jiao G, et al. Treating Bietti crystalline dystrophy in a high-fat diet-exacerbated murine model using gene therapy. Gene Ther. 2020;27:370–382. doi:10.1038/s41434-020-0159-3
   PubMed Web of Science ®Google Scholar
• Gao P, Jia D, Li P, et al. Accumulation of lipid droplets in a novel Bietti crystalline dystrophy zebrafish model with impaired PPARalpha pathway. Invest Ophthalmol Vis Sci. 2022;63:32. doi:10.1167/iovs.63.5.32
   PubMed Web of Science ®Google Scholar
• Ma Z, Jiao X, Agbaga MP, et al. A Bietti crystalline dystrophy mouse model shows increased sensitivity to light-induced injury. Int J Mol Sci. 2022;23:13108.
   PubMed Web of Science ®Google Scholar
• Wang Y, Liu Y, Liu S, et al. A novel and efficient murine model of Bietti crystalline dystrophy. Dis Model Mech. 2022;15. doi:10.1242/dmm.049222
   Web of Science ®Google Scholar
• Wang JH, Lidgerwood GE, Daniszewski M, et al. AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models. Sci Rep. 2022;12:9525. doi:10.1038/s41598-022-12210-8
   PubMed Web of Science ®Google Scholar
• Zhang Z, Yan B, Gao F, et al. PSCs reveal PUFA-provoked mitochondrial stress as a central node potentiating RPE degeneration in Bietti’s crystalline dystrophy. Mol Ther. 2020;28:2642–2661. doi:10.1016/j.ymthe.2020.07.024
   PubMed Web of Science ®Google Scholar
• Wu S, Zhu T, Sun Z, et al. Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations. Stem Cell Res. 2021;53:102330. doi:10.1016/j.scr.2021.102330
   PubMed Web of Science ®Google Scholar
• Zhao Z, Anselmo AC, Mitragotri S. Viral vector-based gene therapies in the clinic. Bioeng Transl Med. 2022;7:e10258. doi:10.1002/btm2.10258
   PubMed Web of Science ®Google Scholar