{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T08:31:11Z","timestamp":1779179471204,"version":"3.51.4"},"reference-count":34,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["ZIA EY000272-32"],"award-info":[{"award-number":["ZIA EY000272-32"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Bietti crystalline corneo-retinal dystrophy (BCD) is an autosomal recessive inherited retinal dystrophy characterized by multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE), pigment clumps, and choroidal atrophy and sclerosis. Blindness and severe visual damage are common in late-stage BCD patients. We generated a Cyp4v3 knockout mouse model to investigate the pathogenesis of BCD. This model exhibits decreased RPE numbers and signs of inflammation response in the retina. Rod photoreceptors were vulnerable to light-induced injury, showing increased deposits through fundoscopy, a decrease in thickness and a loss of cells in the ONL, and the degeneration of rod photoreceptors. These results suggest that an inflammatory response might be an integral part of the pathophysiology of BCD, suggesting that it might be reasonable for BCD patients to avoid strong light, and the results provide a useful model for evaluating the effects of therapeutic approaches.<\/jats:p>","DOI":"10.3390\/ijms232113108","type":"journal-article","created":{"date-parts":[[2022,10,30]],"date-time":"2022-10-30T04:57:34Z","timestamp":1667105854000},"page":"13108","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury"],"prefix":"10.3390","volume":"23","author":[{"given":"Zhiwei","family":"Ma","sequence":"first","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Jiao","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin-Paul","family":"Agbaga","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology, Cell Biology, Oklahoma Center for Neuroscience, Harold Hamm Diabetes, and Dean McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert E.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology, Cell Biology, Oklahoma Center for Neuroscience, Harold Hamm Diabetes, and Dean McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haohua","family":"Qian","sequence":"additional","affiliation":[{"name":"Visual Function Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Li","sequence":"additional","affiliation":[{"name":"Beijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100051, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijin","family":"Dong","sequence":"additional","affiliation":[{"name":"Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4788-0362","authenticated-orcid":false,"given":"J. Fielding","family":"Hejtmancik","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,28]]},"reference":[{"key":"ref_1","first-page":"737","article-title":"Ueber familiaeres vorkommen von \u2018retinitis punctata albescens\u2019 (verbunden mit \u2018dystrophia marginalis cristallinea corneae\u2019), glitzern des glaskoerpers und anderen degenerativen augenveraenderungen","volume":"99","author":"Bietti","year":"1937","journal-title":"Klin. Mbl. Augenheilk"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/S0002-9394(14)76572-9","article-title":"Clinical biochemical and pathologic correlations in Bietti\u2019s crystalline dystrophy","volume":"118","author":"Chan","year":"1994","journal-title":"Am. J. 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