{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:51:19Z","timestamp":1791251479803,"version":"4.1.0"},"reference-count":49,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T00:00:00Z","timestamp":1659571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770966"],"award-info":[{"award-number":["81770966"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["19JCZDJC64000(Z)"],"award-info":[{"award-number":["19JCZDJC64000(Z)"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal degenerative disease characterized by yellow-white crystal deposits in the posterior pole, degeneration of the retinal pigment epithelium (RPE), and sclerosis of the choroid. Mutations in the cytochrome P450 4V2 gene (CYP4V2) cause BCD, which is associated with lipid metabolic disruption. The use of gene-replacement therapy in BCD has been hampered by the lack of disease models. To advance CYP4V2 gene-replacement therapy, we generated BCD patient-specific induced pluripotent stem cell (iPSC)\u2013RPE cells and Cyp4v3 knockout (KO) mice as disease models and AAV2\/8-CAG-CYP4V2 as treatment vectors. We demonstrated that after adeno-associated virus (AAV)-mediated CYP4V2 gene-replacement therapy BCD\u2013iPSC\u2013RPE cells presented restored cell survival and reduced lipid droplets accumulation; restoration of vision in Cyp4v3 KO mice was revealed by elevated electroretinogram amplitude and ameliorated RPE degeneration. These results suggest that AAV-mediated gene-replacement therapy in BCD patients is a promising strategy.<\/jats:p>","DOI":"10.1093\/hmg\/ddac181","type":"journal-article","created":{"date-parts":[[2022,8,4]],"date-time":"2022-08-04T17:19:41Z","timestamp":1659633581000},"page":"122-138","source":"Crossref","is-referenced-by-count":19,"title":["AAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of <i>Cyp4v3<\/i> knockout mice"],"prefix":"10.1093","volume":"32","author":[{"given":"Ruixuan","family":"Jia","sequence":"first","affiliation":[{"name":"Key Laboratory of Vision Loss and Restoration , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"},{"name":"Peking University Third Hospital , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Meng","sequence":"additional","affiliation":[{"name":"Key Laboratory of Vision Loss and Restoration , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"},{"name":"Peking University Third Hospital , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaohong","family":"Chen","sequence":"additional","affiliation":[{"name":"Beijing Chinagene Corporation Ltd , Beijing , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Chinagene Corporation Ltd , Beijing , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Du","sequence":"additional","affiliation":[{"name":"Key Laboratory of Vision Loss and Restoration , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"},{"name":"Peking University Third Hospital , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"},{"name":"Department of Anatomy , Histology, and Embryology, Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, and State Key Laboratory of Natural and Biomimetic Drugs, , Beijing , People\u2019s Republic of China"},{"name":"Peking University Health Science Center , Histology, and Embryology, Key Laboratory of Carcinogenesis and Translational Research, Ministry of Education, and State Key Laboratory of Natural and Biomimetic Drugs, , Beijing , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9893-1986","authenticated-orcid":false,"given":"Xiaozhen","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Vision Loss and Restoration , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"},{"name":"Peking University Third Hospital , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4239-228X","authenticated-orcid":false,"given":"Liping","family":"Yang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Vision Loss and Restoration , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"},{"name":"Peking University Third Hospital , Department of Ophthalmology, Ministry of Education, , Beijing , People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,8,4]]},"reference":[{"key":"2023011312192078700_ref1","first-page":"737","article-title":"Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen","volume":"99","author":"Bietti","year":"1937","journal-title":"Lin. 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