{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:00:00Z","timestamp":1791928800424,"version":"4.3.4"},"reference-count":36,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"5","license":[{"start":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T00:00:00Z","timestamp":1653523200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2022,5,26]]},"DOI":"10.1167\/iovs.63.5.32","type":"journal-article","created":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T11:31:22Z","timestamp":1653564682000},"page":"32","source":"Crossref","is-referenced-by-count":12,"title":["Accumulation of Lipid Droplets in a Novel Bietti Crystalline Dystrophy Zebrafish Model With Impaired PPAR\u03b1 Pathway"],"prefix":"10.1167","volume":"63","author":[{"given":"Pan","family":"Gao","sequence":"first","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danna","family":"Jia","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwen","family":"Huang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hualei","family":"Hu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kui","family":"Sun","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuexia","family":"Lv","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Chen","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunqiao","family":"Han","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuxiao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Ren","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Freshwater Ecology and Biotechnology, Institute of Hydrobiology, The Innovative Academy of Seed Design, Hubei Hongshan Laboratory, Chinese Academy of Sciences, Wuhan, China"},{"name":"University of Chinese Academy of Sciences, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaohui","family":"Tang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mugen","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"issue":"99","key":"bib1","first-page":"739","article-title":"Ueber familiaeres Vorkommen Von \u201cRetinitis punctata albescens\u201d (Verbunden mit \u201cDystropllia marginalis cristallinea comeae\u201d)","author":"Bietti","year":"1937","journal-title":"Klin Mbl AugeIllleilk."},{"key":"bib2","doi-asserted-by":"publisher","first-page":"5212","DOI":"10.1167\/iovs.07-0660","article-title":"Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations","volume":"48","author":"Lai","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1159\/000087214","article-title":"CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy","volume":"37","author":"Gekka","year":"2005","journal-title":"Ophthalmic Res"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1007\/s10384-006-0350-0","article-title":"Clinical and molecular findings in three Japanese patients with crystalline retinopathy","volume":"50","author":"Jin","year":"2006","journal-title":"Jpn J Ophthalmol"},{"issue":"6","key":"bib5","doi-asserted-by":"publisher","first-page":"e38","DOI":"10.1136\/jmg.2004.029066","article-title":"Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy","volume":"42","author":"Lin","year":"2005","journal-title":"J Med Genet"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.bbrc.2011.04.112","article-title":"Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy","volume":"409","author":"Xiao","year":"2011","journal-title":"Biochem Biophys Res Commun"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1097\/00006982-200406000-00013","article-title":"Bietti's crystalline corneoretinal dystrophy: a cross-sectional study","volume":"24","author":"Mataftsi","year":"2004","journal-title":"Retina"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/j.ajo.2015.10.018","article-title":"Evaluation of photoreceptors in Bietti crystalline dystrophy with CYP4V2 mutations using adaptive optics scanning laser ophthalmoscopy","volume":"161","author":"Miyata","year":"2016","journal-title":"Am J Ophthalmol"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"1174","DOI":"10.1016\/j.ophtha.2013.11.042","article-title":"Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy","volume":"121","author":"Halford","year":"2014","journal-title":"Ophthalmology"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1136\/bjo.2010.199356","article-title":"Outer retinal circular structures in patients with Bietti crystalline retinopathy","volume":"96","author":"Kojima","year":"2012","journal-title":"Br J Ophthalmol"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1016\/S0002-9394(14)76572-9","article-title":"Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy","volume":"118","author":"Kaiser-Kupfer","year":"1994","journal-title":"Am J Ophthalmol"},{"key":"bib12","first-page":"213","article-title":"Bietti's crystalline dystrophy. A clinicopathologic correlative study","volume":"107","author":"Wilson","year":"1989","journal-title":"Ophthalmol"},{"key":"bib13","first-page":"1806","article-title":"Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy","volume":"20","author":"Meng","year":"2014","journal-title":"Mol Vis"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/j.exer.2016.03.007","article-title":"Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy","volume":"146","author":"Yin","year":"2016","journal-title":"Exp Eye Res"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"4274","DOI":"10.3390\/ijms20174274","article-title":"Molecular functionality of cytochrome P450 4 (CYP4) genetic polymorphisms and their clinical implications","volume":"20","author":"Jarrar","year":"2019","journal-title":"Int J Mol Sci"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1124\/mol.112.080085","article-title":"CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of omega-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant","volume":"82","author":"Nakano","year":"2012","journal-title":"Mol Pharmacol"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1124\/mi.11.2.10","article-title":"Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states","volume":"11","author":"Kelly","year":"2011","journal-title":"Mol Interv"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"2119","DOI":"10.1124\/dmd.109.028530","article-title":"Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase","volume":"37","author":"Nakano","year":"2009","journal-title":"Drug Metab Dispos"},{"issue":"2","key":"bib19","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1167\/iovs.09-3665","article-title":"Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes","volume":"51","author":"Lai","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"5572","DOI":"10.1167\/iovs.13-13717","article-title":"Generation and characterization of a murine model of Bietti crystalline dystrophy","volume":"55","author":"Lockhart","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"3936","DOI":"10.1073\/pnas.1717338115","article-title":"Reduction of lipid accumulation rescues Bietti's crystalline dystrophy phenotypes","volume":"115","author":"Hata","year":"2018","journal-title":"Proc Natl Acad Sci USA"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"e45100","DOI":"10.7554\/eLife.45100","article-title":"Impaired ABCA1\/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration","volume":"8","author":"Storti","year":"2019","journal-title":"Elife"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"2694","DOI":"10.1016\/j.bbadis.2019.07.009","article-title":"Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking","volume":"1865","author":"Qu","year":"2019","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"4714","DOI":"10.1167\/iovs.14-14332","article-title":"Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina","volume":"55","author":"Oczos","year":"2014","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/S0092-8674(03)00268-X","article-title":"A somitic compartment of tendon progenitors","volume":"113","author":"Brent","year":"2003","journal-title":"Cell"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1093\/molbev\/msw054","article-title":"MEGA7: Molecular Evolutionary Genetics Analysis Version 7.0 for Bigger Datasets","volume":"33","author":"Kumar","year":"2016","journal-title":"Mol Biol Evol"},{"key":"bib27","first-page":"1707","article-title":"The metabolism of fatty acids in human Bietti crystalline dystrophy","volume":"42","author":"Lee","year":"2001","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.exer.2011.06.019","article-title":"Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2)","volume":"102","author":"Mackay","year":"2012","journal-title":"Exp Eye Res"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"2642","DOI":"10.1016\/j.ymthe.2020.07.024","article-title":"PSCs Reveal PUFA-provoked mitochondrial stress as a central node potentiating RPE degeneration in Bietti's crystalline dystrophy","volume":"28","author":"Zhang","year":"2020","journal-title":"Mol Ther"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1016\/j.bbamcr.2010.03.013","article-title":"Be different\u2014the diversity of peroxisomes in the animal kingdom","volume":"1803","author":"Islinger","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1210\/er.2018-00064","article-title":"Molecular actions of PPARalpha in lipid metabolism and inflammation","volume":"39","author":"Bougarne","year":"2018","journal-title":"Endocr Rev"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"1202","DOI":"10.1172\/JCI88894","article-title":"Distinct but complementary contributions of PPAR isotypes to energy homeostasis","volume":"127","author":"Dubois","year":"2017","journal-title":"J Clin Invest"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.plipres.2005.12.002","article-title":"From molecular action to physiological outputs: peroxisome proliferator-activated receptors are nuclear receptors at the crossroads of key cellular functions","volume":"45","author":"Feige","year":"2006","journal-title":"Prog Lipid Res"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1172\/JCI27989","article-title":"Sorting out the roles of PPAR alpha in energy metabolism and vascular homeostasis","volume":"116","author":"Lefebvre","year":"2006","journal-title":"J Clin Invest"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"e002","DOI":"10.1621\/nrs.08002","article-title":"PPARalpha: energy combustion, hypolipidemia, inflammation and cancer","volume":"8","author":"Pyper","year":"2010","journal-title":"Nucl Recept Signal"},{"issue":"1-2","key":"bib36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0090-6980(03)00003-0","article-title":"Peroxisome proliferator-activated receptors: a critical review on endogenous pathways for ligand generation","volume":"71","author":"Bishop-Bailey","year":"2003","journal-title":"Prostaglandins Other Lipid Mediat"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2778864","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:35Z","timestamp":1791927095000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2778864"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,26]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5,2]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.63.5.32","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2022,5,26]]}}}