Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization

References

• 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.
   PubMed Web of Science ®Google Scholar
• Nakano M, Kelly EJ, Wiek C, et al. 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.
   PubMed Web of Science ®Google Scholar
• Mataftsi A, Zografos L, Milla E, et al. Bietti’s crystalline corneoretinal dystrophy: A cross-sectional study. Retina 2004;24:416–426.
   PubMed Web of Science ®Google Scholar
• Bietti G. Ueber familiaeres vorkommen von “retinitis punctata albescens” (verbunden mit“dystrophia marginalis cristallinea cormeae”), glitzern des glaskoerpers und anderen degenerativen augenveraenderungen [in German]. Klin Mbl Augenheilk 1937;99:737–757.
   Google Scholar
• Atmaca LS, Muftuoglu O, Atmaca-Sonmez P. Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. Eye (Lond) 2007;21:839–842.
   PubMed Web of Science ®Google Scholar
• Gupta B, Parvizi S, Mohamed MD. Bietti crystalline dystrophy and choroidal neovascularisation. Int Ophthalmol 2011;31:59–61.
   PubMedGoogle 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.
   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
• 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.
   PubMed Web of Science ®Google Scholar
• Le Tien V, Atmani K, Querques G, et al. Ranibizumab for subfoveal choroidal neovascularization in Bietti crystalline retinopathy. Eye (Lond) 2010;24:1728–1729.
   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.
   Google Scholar
• Lockhart CM, Nakano M, Rettie AE, et al. Generation and characterization of a murine model of Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci 2014;55:5572–5581.
   PubMed Web of Science ®Google Scholar
• Jacobson SG, Voigt WJ, Parel JM, et al. Automated light- and dark-adapted perimetry for evaluating retinitis pigmentosa. Ophthalmology 1986;93:1604–1611.
   PubMed Web of Science ®Google Scholar
• Jackson GR, Scott IU, Kim IK, et al. Diagnostic sensitivity and specificity of dark adaptometry for detection of age-related macular degeneration. Invest Ophthalmol Vis Sci 2014;55:1427–1431.
   PubMed Web of Science ®Google Scholar
• McCulloch DL, Marmor MF, Brigell MG, et al. ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 2015;130:1–12.
   PubMed Web of Science ®Google Scholar
• Curcio CA, Messinger JD, Sloan KR, et al. Human chorioretinal layer thicknesses measured in macula-wide, high-resolution histologic sections. Invest Ophthalmol Vis Sci 2011;52:3943–3954.
   PubMed Web of Science ®Google Scholar
• Arditi A, Cagenello R. On the statistical reliability of letter-chart visual acuity measurements. Invest Ophthalmol Vis Sci 1993;34:120–129.
   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.
   PubMed Web of Science ®Google Scholar
• Furusato E, JD Cameron, Chan CC. Evolution of cellular inclusions in Bietti’s crystalline dystrophy. Ophthalmol Eye Dis 2010;2010:9–15.
   PubMedGoogle Scholar
• Marano F, Deutman AF, Leys A, et al. Hereditary retinal dystrophies and choroidal neovascularization. Graefes Arch Clin Exp Ophthalmol 2000;238:760–764.
   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.
   PubMed Web of Science ®Google Scholar
• Meng XH, Guo H, Xu HW, et al. Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti’s crystalline corneoretinal dystrophy. Mol Vis 2014;20:1806–1814.
   PubMed Web of Science ®Google Scholar
• Lai TY, Ng TK, Tam PO, et al. Genotype phenotype analysis of Bietti’s crystalline dystrophy in patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci 2007;48:5212–5220.
   PubMed Web of Science ®Google Scholar
• Astuti GD, Sun V, Bauwens M, et al. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti’s retinal dystrophy. Mol Genet Genomic Med 2015;3:14–29.
   PubMedGoogle Scholar
• Bisantis C. G.B. Bietti’s sectorial pigmentary retinopathy. Contribution to the knowledge of its various clinical aspects. Ann Ocul (Paris) 1971;204:907–954.
   PubMedGoogle Scholar
• Yanagi Y, Tamaki Y, Takahashi H, et al. Clinical and functional findings in crystalline retinopathy. Retina 2004;24:267–274.
   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.
   PubMed Web of Science ®Google Scholar
• Liu DN, Liu Y, Meng XH, Yin ZQ. The characterization of functional disturbances in Chinese patients with Bietti’s crystalline dystrophy at different fundus stages. Graefes Arch Clin Exp Ophthalmol 2012;250:191–200.
   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.
   PubMed Web of Science ®Google Scholar
• Parravano M, Sciamanna M, Giorno P, et al. Bietti crystalline dystrophy: a morpho-functional evaluation. Doc Ophthalmol 2012;124:73–77.
   PubMed Web of Science ®Google Scholar
• Sen P, Ray R, Ravi P. Electrophysiological findings in Bietti’s crystalline dystrophy. Clin Exp Optom 2011;94:302–308.
   PubMed Web of Science ®Google 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.
   PubMed Web of Science ®Google Scholar
• Rossi S, Testa F, Li A, et al. Clinical and genetic features in Italian Bietti crystalline dystrophy patients. Br J Ophthalmol 2013;97:174–179.
   PubMed Web of Science ®Google 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.
   PubMed Web of Science ®Google Scholar
• Milam AH, Curcio CA, Cideciyan AV, et al. Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. Ophthalmology 2000;107:2256–2266.
   PubMed Web of Science ®Google Scholar
• Vincent A, Munier FL, Vandenhoven CC, et al. The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. Retina 2012;32:1643–1651.
   PubMed Web of Science ®Google Scholar
• Soumplis V, Sergouniotis PI, Robson AG, et al. Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration). Acta Ophthalmol 2013;91:e191–5.
   Google Scholar
• Jacobson SG, Cideciyan AV, Sumaroka A, et al. Late-onset retinal degeneration caused by C1QTNF5 mutation: Sub-retinal pigment epithelium deposits and visual consequences. JAMA Ophthalmol 2014;132:1252–1255.
   PubMed Web of Science ®Google Scholar
• Park YJ, Hwang DJ, Seong MW, et al. Bietti crystalline retinopathy confirmed by mutation of CYP4V2 gene in a Korean patient. Korean J Ophthalmol 2016;30:81–83.
   Google Scholar
• Toto L, Carpineto P, Parodi MB, et al. 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.
   PubMed Web of Science ®Google Scholar
• Manzouri B, Sergouniotis PI, Robson AG, et al. Bietti crystalline retinopathy: Report of retinal crystal deposition in male adolescent siblings. Arch Ophthalmol. 2012;130:1470–1473.
   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.
   PubMed Web of Science ®Google Scholar
• Kennedy CJ, Rakoczy PE, Constable IJ. Lipofuscin of the retinal pigment epithelium: A review. Eye (Lond) 1995;9(Pt 6):763–771.
   PubMed Web of Science ®Google Scholar
• Owsley C, Jackson GR, Cideciyan AV, et al. Psychophysical evidence for rod vulnerability in age-related macular degeneration. Invest Ophthalmol Vis Sci 2000;41:267–273.
   PubMed Web of Science ®Google Scholar
• Usui T, Tanimoto N, Takagi M, et al. Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol 2001;132:395–402.
   PubMed Web of Science ®Google Scholar
• Tian R, Wang SR, Wang J, Chen YX. Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients. Int J Ophthalmol. 2015;8:465–469.
   Google Scholar
• Wilson DJ, Weleber RG, Klein ML, et al. Bietti’s crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol 1989;107:213–221.
   PubMed Web of Science ®Google Scholar
• Lin J, Nishiguchi KM, Nakamura M, et al. Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet 2005;42:e38.
   PubMed Web of Science ®Google Scholar
• Jiang L, Wen F, Wu L, et al. Indocyanine green angiographic and multifocal electroretinographic features in the diffuse and regional form of Bietti’s crystalline retinopathy. Yan Ke Xue Bao 2002;18:9–13.
   PubMedGoogle Scholar
• Gekka T, Hayashi T, Takeuchi T, et al. CYP4V2 mutations in two Japanese patients with Bietti’s crystalline dystrophy. Ophthalmic Res 2005;37:262–269.
   PubMed Web of Science ®Google Scholar
• Jin ZB, Ito S, Saito Y, et al. Clinical and molecular findings in three Japanese patients with crystalline retinopathy. Jpn J Ophthalmol 2006;50:426–431.
   PubMed Web of Science ®Google Scholar
• Takikawa C, Miyake Y, Yamamoto S. Re-evaluation of crystalline retinopathy based on corneal findings. Folia Ophthalmol Jpn 1992;43:969–978.
   Google Scholar
• Glaser BM, Campochiaro PA, Davis JL, Jr, et al. Retinal pigment epithelial cells release inhibitors of neovascularization. Ophthalmology 1987;94:780–784.
   PubMed Web of Science ®Google Scholar
• Viola F, Villani E, Mapelli C, Staurenghi G, Ratiglia R. Bilateral juvenile choroidal neovascularization associated with Best’s vitelliform dystrophy: Observation versus photodynamic therapy. J Pediatr Ophthalmol Strabismus 2010;47:121–122.
   Google Scholar
• Palejwala NV, Lauer AK, Weleber RG. Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab. Clin Ophthalmol 2014;8:1675–1679.
   PubMedGoogle Scholar
• Battaglia Parodi M, De Benedetto U, Knutsson KA, et al. Juxtafoveal choroidal neovascularization associated with retinitis pigmentosa treated with intravitreal bevacizumab. J Ocul Pharmacol Ther 2012;28:202–204.
   PubMed Web of Science ®Google Scholar
• Campos-Pavon J, Torres-Pena JL. Choroidal neovascularization secondary to choroideremia. Arch Soc Esp Oftalmol 2015;90:289–291.
   PubMedGoogle Scholar
• Cheng JY, Adrian KH. Photodynamic therapy for choroidal neovascularization in Stargardt disease and retinitis pigmentosa. Retin Cases Brief Rep 2009;3:388–390.
   PubMedGoogle Scholar
• Jacobson SG, Cideciyan AV, Wright E, et al. Phenotypic marker for early disease detection in dominant late-onset retinal degeneration. Invest Ophthalmol Vis Sci 2001;42:1882–1890.
   PubMed Web of Science ®Google Scholar
• Steinmetz RL, Haimovici R, Jubb C, et al. Symptomatic abnormalities of dark adaptation in patients with age-related Bruch’s membrane change. Br J Ophthalmol 1993;77:549–554.
   PubMed Web of Science ®Google Scholar
• Spaide RF, Curcio CA. Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: Literature review and model. Retina 2011;31:1609–1619.
   PubMed Web of Science ®Google Scholar