Table 1. A summary of the 23 mutation combinations observed in 118 patients with STGD, showing the number of patients per combination and the average and median AOO (in years) per combination.
| Mutation 1 | Mutation 2 | Number of patients | Average AOO (years) | Median AOO (years) |
|---|---|---|---|---|
| c.5461–10T>C | c.768G>T (p.Val256Val) | 1 | 6 | 6 |
| c.5461–10T>C | c.5461–10T>C | 2 | 6.5 | 6.5 |
| c.1804C>T (p.Arg602Trp) | c.768G>T (p.Val256Val) | 3 | 6.7 | 6 |
| c.5461–10T>C | c.454C>T (p.Arg152*) | 3 | 7 | 8 |
| c.4469G>A (p.Cys1490Tyr) | c.454C>T (p.Arg152*) | 6 | 7.8 | 8 |
| c.768G>T (p.Val256Val) | c.454C>T (p.Arg152*) | 4 | 8 | 9 |
| c.768G>T (p.Val256Val) | c.768G>T (p.Val256Val) | 1 | 8 | 8 |
| c.4469G>A (p.Cys1490Tyr) | c.4469G>A (p.Cys1490Tyr) | 9 | 8.1 | 8 |
| c.6079C>T (p.Leu2027Phe) | c.454 C>T (p.Arg152*) | 7 | 8.2 | 7 |
| c.4469G>A (p.Cys1490Tyr) | c.1804C>T (p.Arg602Trp) | 13 | 8.6 | 8 |
| c.4469G>A (p.Cys1490Tyr) | c.5461–10T>C | 13 | 8.8 | 9 |
| c.4469G>A (p.Cys1490Tyr) | c.768G>T (p.Val256Val) | 10 | 10.3 | 9 |
| c.4469G>A (p.Cys1490Tyr) | c.6079C>T (p.Leu2027Phe) | 12 | 10.3 | 9.5 |
| c.6079C>T (p.Leu2027Phe) | c.5461–10T>C | 3 | 11 | 10 |
| c.1804C>T (p.Arg602Trp) | c.5461–10T>C | 1 | 11 | 11 |
| (c.1804C>T (p.Arg602Trp) | c.6079C>T (p.Leu2027Phe) | 8 | 12 | 11 |
| c.6079C>T (p.Leu2027Phe) | c.768G>T (p.Val256Val) | 6 | 12.5 | 13 |
| c.768G>T (p.Val256Val) | c.2588G>C (p.Gly863Ala) | 3 | 16.7 | 18 |
| c.1804C>T (p.Arg602Trp) | c.2588G>C (p.Gly863Ala) | 2 | 17.5 | 17.5 |
| c.4469G>A (p.Cys1490Tyr) | c.2588G>C (p.Gly863Ala) | 4 | 18.5 | 19 |
| c.5461–10T>C | c.2588G>C (p.Gly863Ala) | 1 | 20 | 20 |
| c.6079C>T (p.Leu2027Phe) | c.6079C>T (p.Leu2027Phe) | 2 | 28 | 28 |
| c.2588G>C (p.Gly863Ala) | c.454C>T (p.Arg152*) | 4 | 28 | 30 |