Summary of clinical findings
| Family | Case* | Age (years) | VA | Refractive error | Cone ERG |
|---|---|---|---|---|---|
| *Cases 1 and 2 are brothers, cases 4 and 5 are sisters. | |||||
| A | 1 | 8 | 6/12 RE | +2.0/+1.50×90 | Absent cone ERG |
| 6/18 LE | +2.5/+1.75×90 | ||||
| A | 2 | 6 | 6/18 RE | +3.0/+1.00×90 | Absent cone ERG |
| 6/18 LE | +3.5/+1.25×90 | ||||
| B | 3 | 8 | 6/12 RE | +1.25/+1.5×90 | Reduced cone b:a wave ratio |
| 6/12 LE | +1.25/+2.0×90 | ||||
| C | 4 | 14 | 6/24 RE | −11.0/−2.00×30 | Markedly reduced cone ERG |
| 6/12 LE | −8.5/−3.00×155 | ||||
| C | 5 | 6 | 6/24 RE | −8.0/−1.50×20 | Markedly reduced cone ERG |
| 6/24 LE | −9.5/−2.00×110 | ||||
| D | 6 | 8 | 6/24 RE | −13.0/−1.5×170 | Delayed and mildly reduced cone ERG |
| 6/36 LE | −13.0/−1.25×10 | ||||