Table 1 of Kjellström, Mol Vis 2022; 28:300-316.
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 |