Table 1. Summary of clinical findings in affected males and carriers.
ID | Gender | Age | BCVA (right/left) | Iris hypopigmentation | Fundus hypopigmentation | Foveal hypoplasia | Nystagmus |
---|---|---|---|---|---|---|---|
Patient | |||||||
F1-II:1 | M | 4 | NA1 | No | Yes | Yes | Yes |
F2-II:1 | M | 3 | LP/LP2 | No | Yes | Yes | Yes |
F3-III:3 | M | 24 | 0.15/0.15 | Yes | Yes | Yes | Yes |
Carrier | |||||||
F1-I:2 | F | 25 | 1.0/1.0 | No | Peripheral mosaic pattern | No | No |
1Not available, 2LP = light perception.