Table 2 of Yang, Mol Vis 2009; 15:432-437.


Table 2. Summary of clinical findings and CYP1B1 mutations in six PCG patients.


Patient

Gender
Age at
diagnosis

Mutation 1

Mutation 2

SNP
VA
OD
VA
OS
G1 F 2 Y g.8242C>T (R469W) g.4633delC (p.F276FfsX1) C/C CF LP
G13 M 3 Y g.8006G>A (R390H) g.4633delC (p.F276FfsX1) C/C CF CF
G28 M 10 Mo g.8006G>A (R390H) g.4531del22bp (p.D242DfsX28) C/C LP LP
G40 F 1 Y g.8249T>G (I 471S) g.8249T>G (I 471S) C/C LP LP
G41 M 3 Y g.8006G>A (R390H) g.4812C>A (S336Y) C/C LP 0.2
G92 M 19 Y g.8006G>A (R390H) g.8006G>A (R390H) C/C CF 0.5–0.7