Table 4 of
Chen, Mol Vis 2013; 19:292-302. Table 4 of
Chen, Mol Vis 2013; 19:292-302.
Table 4. Clinical characteristics of the patients with OPA1 mutations.
| Patient ID | OPA1 mutations | Sex | Age (year) at | Inheri- tance | BCVA | Optic | VEP | RNFL thinning | Scotoma | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| exam | onset | OD | OS | atrophy | prolonged latencies | diminished amplitudes | OD | OS | OD | OS | ||||
| le1608 | c.49_50insGG | M | 12 | 9 | Spo | 0.3 | 0.2 | Yes | Yes | No | NA | NA | NA | NA |
| le2028 | c.[190_194del]; [1129G>A] | M | 4 | 2 | Fam | 0.05 | 0.05 | Yes | Yes | Yes | Yes | Yes | NA | NA |
| le2028F | c.190_194del | M | 39 | NA | Fam | 0.6 | 0.7 | Yes | Yes | No | Yes | Yes | No | No |
| le2028M | c.1129G>A | F | 33 | NA | Fam | 1.5 | 1.5 | No | No | No | No | No | No | No |
| le2146 | c.985–1G>A | M | 16 | 6 | Fam | 0.2 | 0.4 | Yes | Yes | Yes | NA | NA | Yes | Yes |
| le1524 | c.989C>G | M | 17 | 17 | Fam | 0.3 | 0.15 | Yes | NA | NA | NA | NA | Yes | Yes |
| le1656 | c.991_992del | M | 8 | 7 | Spo | 0.1 | 0.1 | Yes | Yes | Yes | NA | NA | Yes | Yes |
| le1599 | c.2119G>T | F | 24 | 14 | Spo | 0.3 | 0.3 | Yes | Yes | Yes | NA | NA | Yes | Yes |
| le1432 | c.2389A>T | F | 13 | 10 | Spo | 0.4 | 0.2 | Yes | NA | NA | Yes | Yes | Yes | Yes |
| le1432F | c.2389A>T | M | 41 | NA | Spo | 0.7 | 0.7 | Yes | NA | NA | Yes | Yes | NA | NA |
| le1601 | c.2470C>T | F | 35 | 35* | Spo | 0.3 | 0.2 | Yes | NA | NA | NA | NA | NA | NA |
| le1574 | c.2614–2A>G | M | 24 | 24* | Spo | 0.2 | 0.3 | Yes | NA | NA | NA | NA | NA | NA |
| le1434 | c.2708_2711del | M | 6 | 3 | Spo | 0.2 | 0.4 | Yes | Yes | Yes | Yes | Yes | NA | NA |
| le1411 | c.2708_2711del | M | 9 | 6 | Spo | 0.2 | 0.2 | Yes | NA | NA | NA | NA | NA | NA |
| le2062 | c.2708_2711del | F | 17 | 12 | Spo | 0.4 | 0.4 | Yes | Yes | Yes | NA | NA | No | No |
| le2062M | c.2708_2711del | F | 49 | NA | Spo | 0.7 | 0.7 | Yes | NA | NA | Yes | Yes | NA | NA |