A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury
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 at...
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MDPI AG
2022-10-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/21/13108 |
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| author | Zhiwei Ma Xiaodong Jiao Martin-Paul Agbaga Robert E. Anderson Haohua Qian Qian Li Lijin Dong J. Fielding Hejtmancik |
| author_facet | Zhiwei Ma Xiaodong Jiao Martin-Paul Agbaga Robert E. Anderson Haohua Qian Qian Li Lijin Dong J. Fielding Hejtmancik |
| author_sort | Zhiwei Ma |
| collection | DOAJ |
| description | 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 <i>Cyp4v3</i> 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. |
| first_indexed | 2024-03-09T19:00:27Z |
| format | Article |
| id | doaj.art-400e2d87b7ca4b8897828fe44d44fe85 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T19:00:27Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-400e2d87b7ca4b8897828fe44d44fe852023-11-24T05:02:39ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-10-0123211310810.3390/ijms232113108A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced InjuryZhiwei Ma0Xiaodong Jiao1Martin-Paul Agbaga2Robert E. Anderson3Haohua Qian4Qian Li5Lijin Dong6J. Fielding Hejtmancik7Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USAOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USADepartments 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, USADepartments 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, USAVisual Function Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USABeijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100051, ChinaGenetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USAOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USABietti 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 <i>Cyp4v3</i> 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.https://www.mdpi.com/1422-0067/23/21/13108Bietti crystalline dystrophy<i>Cyp4v3</i>mouse modellight-induced injuryhigh-fat diet |
| spellingShingle | Zhiwei Ma Xiaodong Jiao Martin-Paul Agbaga Robert E. Anderson Haohua Qian Qian Li Lijin Dong J. Fielding Hejtmancik A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury International Journal of Molecular Sciences Bietti crystalline dystrophy <i>Cyp4v3</i> mouse model light-induced injury high-fat diet |
| title | A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury |
| title_full | A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury |
| title_fullStr | A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury |
| title_full_unstemmed | A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury |
| title_short | A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury |
| title_sort | bietti crystalline dystrophy mouse model shows increased sensitivity to light induced injury |
| topic | Bietti crystalline dystrophy <i>Cyp4v3</i> mouse model light-induced injury high-fat diet |
| url | https://www.mdpi.com/1422-0067/23/21/13108 |
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