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