Table 1 of
Yang, Mol Vis 2014; 20:1132-1136. Table 1 of
Yang, Mol Vis 2014; 20:1132-1136.
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 |