Table 1 of
Meng, Mol Vis 2014; 20:1806-1814.
Table 1. Demographics, Clinic data and Genotypes of Patients with novel mutations for the CYP4V2.
Patient | Age/gender | Age at onset of NB | Age at onset of DV | Refractive error (SE) | VA senllen | Nucleotide change (Mutations) |
---|---|---|---|---|---|---|
31 | 43/F | 30 | 11 | RE: —10.5 | RE:20/200 | c.283G>A, p.G95R+ c.1027T>G, p.Y343D﹡ |
LE:—10.5 | LE:20/125 | |||||
33 | 61/F | 55 | 55 | RE:20/400 | c.802–8_810del17insGC+ c.413+2T>G,del﹡ | |
LE:HM | ||||||
60 | 55/M | 49 | 44 | RE: —2.75 | RE:20/200 | c.31C>T, p.Q11X*+ c.31C>T, p.Q11X* |
LE: —2.75 | LE:20/125 | |||||
86 | 44/M | 41 | 34 | RE:20/200 | c.802–8_810del17insGC+ c.791 del T* | |
LE:20/50 |