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Prevalence and optical coherence tomography analyses of outer retinal tubulations in Chinese population with inherited retinal diseases.
Chen Y, Chen J, Wang H, Yu Y, Wang W, Liu W, Yu S, Gong Y, Jia H, Li T, Sun X. Chen Y, et al. Eye (Lond). 2024 Feb;38(2):328-334. doi: 10.1038/s41433-023-02686-7. Epub 2023 Aug 8. Eye (Lond). 2024. PMID: 37553355
ORT was observed in 41 eyes (10.2%), including 26 of 28 eyes (92.9%) with Bietti crystalline corneoretinal dystrophy (BCD), 14 of 338 eyes (4.1%) with retinitis pigmentosa (RP), and 1 of 26 eyes (3.8%) in eyes with cone-rod dystrophy. ...
ORT was observed in 41 eyes (10.2%), including 26 of 28 eyes (92.9%) with Bietti crystalline corneoretinal dystrophy …
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
Wang Y, Guo L, Cai SP, Dai M, Yang Q, Yu W, Yan N, Zhou X, Fu J, Guo X, Han P, Wang J, Liu X. Wang Y, et al. PLoS One. 2012;7(5):e33673. doi: 10.1371/journal.pone.0033673. Epub 2012 May 31. PLoS One. 2012. PMID: 22693542 Free PMC article.
Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene, known as genetic defects for Bietti crystalline corneoretinal dystrophy, were identified as causative mutations for RP of this family....
Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene, known as genetic defects for Bietti c …