Associated Papers
Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophy.
Jia R et al.
Progress in Retinal and Eye Research, 2025
Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.
Wang J et al.
Signal Transduction and Targeted Therapy, 2024
38653979 (PubMed )
Supplement: 41392_2024_1806_MOESM2_ESM.docx
Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.
Meng XH et al.
Molecular Vision, 2019
Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.
Meng XH et al.
Molecular Vision, 2014
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
Li A et al.
American Journal of Human Genetics, 2004
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