| Jinyuan Wang, Jinlu Zhang, Shicheng Yu, Hongyan Li, Shaohong Chen, Jingting Luo, Haibo Wang, Yuxia Guan, Haihan Zhang, Shiyi Yin, Huili Wang, Heping Li, Junle Liu, Jingyuan Zhu, Qiong Yang, Ying Sha, Chuan Zhang, Yuhang Yang, Xuan Yang, Xifang Zhang, Xiuli Zhao, Likun Wang, Liping Yang, Wenbin We. Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial. Signal transduction and targeted therapy. vol 9. issue 1. 2024-04-23. PMID:38653979. |
bietti crystalline corneoretinal dystrophy is an inherited retinal disease caused by mutations in cyp4v2, which results in blindness in the working-age population, and there is currently no available treatment. |
2024-04-23 |
2024-04-26 |
human |
| Ting Wang, Qingshan Chen, Xue Yao, Longhao Kuang, Run Gan, Jiantao Wang, Xiaohe Ya. New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy. Gene. vol 790. 2021-06-07. PMID:33964374. |
bietti crystalline corneoretinal dystrophy (bcd) is an autosomal recessive retinal dystrophy which is caused by the mutations of cyp4v2, usually progressing to legal blindness by the 5th or 6th decade of life. |
2021-06-07 |
2023-08-13 |
Not clear |