Table 2. Clinical characteristics of participating family members.
| Person | Current age (y) | Gender | Age of onset (y) |
Visual acuity |
Fundus appearance | |
|---|---|---|---|---|---|---|
| OD | OS | |||||
| II:4 |
37 |
F |
8 |
LP+ |
LP+ |
AA, BS, POD |
| II:6 |
29 |
F |
9 |
1/300 |
1/300 |
AA, BS, POD |
| II:7 |
27 |
F |
11 |
1/300 |
2/60 |
AA, BS |
| I:1 |
64 |
M |
NA |
20/40 |
20/25 |
Normal |
| II:2 | 42 | M | NA | 20/15 | 20/20 | Normal |
Clinical characteristics of affected family members carrying two RP1 variants and non-affected family members carrying one RP1 variant or two wild-type alleles. Abbreviations: AA: attenuated arterioles; BS: bone spicules; F: female; LP+: light perception; M: male; NA: not affected; OD: oculus dexter, right eye; OS: oculus sinister, left eye; POD: pale optic disc.