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