Table 1. Clinical features of the families with the p.R838P mutation in GUCY2D.
Individual | Age | Visual acuity (RE/ LE) | Fundus findings | Central scotoma | Color vision | Nystagmus |
---|---|---|---|---|---|---|
II:1 |
70 |
0.01/0.01 |
Macular degeneration |
+++ |
Normal |
+ |
II: 3 |
61 |
0.3/0.2 |
Macular degeneration |
N/A |
Normal |
+ |
II:4 |
59 |
0.01/0.01 |
Macular degeneration Salt-and-pepper fundus appearance in the posterior pole |
++ |
Normal |
+ |
III:2 |
35 |
0.2/0.2 |
Tapetoretinal degeneration
Salt-and-pepper fundus appearance |
++ |
Normal |
+ |
III:5 |
28 |
0.3/0.1 |
Discreet salt-and-pepper fundus appearance |
++ |
Normal |
+ |
IV:1 |
21 |
N/A |
Salt-and-pepper fundus appearance |
++ |
Normal |
+ |
IV:2 | 15 | 0.1/0.1 | Poorly distinguishable macula | + | Normal | + |