Case ID* 1 | Age at the latestexamination | Genotypes* 2 | Vision | Fundoscopy | Motor milestones* 3 |
---|---|---|---|---|---|
1 | 25y11m | p.P240L / p.P240L | Normal | Not done | Normal |
2 | 25y7m | p.P240L / p.P240L | Normal | Not done | Normal |
3 | 25y2m | p.P240L / p.P240L | Normal | Not done | Normal |
4 | 24y2m | p.P240L / p.P240L | Normal | Not done | Normal |
5 | 17y3m | p.P240L / p.R2029W | Normal | Normal | Normal |
6 | 14y1m | p.E2438K / p.N3044Tfs | Normal | Not done | Normal |
7 | 13y3m | p.P240L / p.R2029W | Myopia | Normal | Normal |
8 | 13y2m | p.D1626A / p.L2223Wfs | Normal | Not done | Normal |
9 | 13y1m | p.P240L / p.P240L | Normal | Not done | Normal |
10 | 11y8m | p.P240L / p.P240L | Normal | Not done | Normal |
11 | 11y4m | p.E2438K / p.N3044Tfs | Normal | Not done | Normal |
12 | 11y2m | p.D645G / p.E956K | Normal | Not done | Normal |
13 | 9y7m | p.P240L / p.E956K | Myopia | Normal | Normal |
14 | 9y2m | p.Q1716P / p.E2438K | Normal | Not done | Normal |
15 | 8y5m | p.P240L / p.E956K | Normal | Not done | Normal |
16 | 7y3m | p.P240L / p.E956K | Normal | Not done | Normal |
17 | 7y0m | p.P240L / p.P240L | Normal | Not done | Normal |
18 | 6y4m | p.P346S / p.Q1716P | Normal | Not done | Normal |
20 | 5y9m | p.P240L / c.6712 + 1G > A | Normal | Not done | Normal |
21 | 3y10m | p.P240L / c.6712 + 1G > A | Hyperopia | Normal | Normal |