Table 1 of
Kjellström, Mol Vis 2022; 28:300-316. Table 1 of
Kjellström, Mol Vis 2022; 28:300-316.
Table 1. Demographic and genetic data. Subjects highlighted in bold were excluded from the study due to the newly detected pathogenic ABCA4 variants that could be in trans with the one previously found.
| Subject/Gender | Age | Mutations found initially | Mutations found on follow-up | BCVA (RE, LE) |
|---|---|---|---|---|
| 1/F | 65 | c.768 G>T | c.768 G>T | 1.0, 0.4 0.8, 0.4* |
| 2/M | 66 | c.768 G>T | c.768 G>T | 1.0, 0.9 1.0, 1.0 |
| 3/M | 50 | c.768 G>T | c.768 G>T | 1.0, 1.0 1.0, 1.0 |
| 4/F | 64 | c.5461–10T>C | c.5461–10T>C, c.5603 A>T (in cis) | 1.0, 1.0 1.0, 0.9 |
| 5/M | 66 | c.319 C>T | c.319 C>T, c.5603 A>T (in cis) | 0.9, 0.8 1.0, 1.0 |
| 6/F | 49 | c.5917delG | c.5917delG | 0.7, 1.0 0.7, 1.0 |
| 7/F | 62 | c.2894 A>G | c.2894 A>G | 0.8, 1.0 1.0, 1.0 |
| 8/M excluded | 66 | c.768 G>T | c.768 G>T, c.5603 A>T | 0.9, 0.9 1.0, 1.0 |
| 10/M excluded | 56 | c.1804 C>T | c.1804 C>T, c.5603 A>T | 1.0, 1.0 1.0, 1.0 |
| 11/F | 54 | c.4469 G>A | c.4469 G>A, c.5603 A>T (in cis) | 1.0, 1.0 1.0, 1.0 |
| 12/M | 56 | c.6079 C>T | c.6079 C>T | 0.9, 0.9 1.0, 1.0 |
| 13/F | 52 | c.2894 A>G | c.2894 A>G | 1.0, 1.0 1.0, 1.0 |
| 14/M | 58 | c.2894 A>G | c.2894 A>G | 0.5, 1.0 0.8, 1.0 |