Table 1. The clinical features of probands from the eight families.
| Proband/Family | Age/Sex | Mutation | Onset of blindness | BCVA | Fundusa | ERG |
|---|---|---|---|---|---|---|
| III:1/Family 12 |
24 y/F |
p.R21C |
16 y |
0.25/0.25 |
No |
No rod responses |
| II:4/Family 245 |
39 y/F |
p.T92I |
Early Childhood |
0.10/0.10 |
YES |
No rod responses |
| III:1/Family 30 |
43 y/M |
p.C110S |
Early Childhood |
0.12/0.12 |
YES |
Data not available |
| II:7/Family 13 |
42 y/F |
p.G182V |
Early Childhood |
0.15/0.12 |
YES |
No rod responses |
| II:5/Family 22 |
48 y/F |
p.C187G |
Early Childhood |
0.30/0.30 |
YES |
No rod responses |
| III:3/Family 7 |
42 y/F |
c.409-426del |
25 y |
0.15/0.12 |
YES |
No rod responses |
| II:5/Family 171 |
39 y/M |
p.Y178C |
Early Childhood |
0.20/0.30 |
YES |
No rod responses |
| III:1/Family 21 | 27 y/M | p.P347L | Early Childhood | 0.40/0.30 | YES | No rod responses |
Abbreviations: BCVA, best corrected visual acuity; ERG, electroretinogram; a,bone spicule pigment deposits.