Table 1. Clinical data of the patients in the Chinese family with an Arg838His mutation in GUCY2D.
| ID# | Gender | Age (years) at | First symptom | Visual acuity | Refraction (diopters) | Fundus changes | ERG responses | Color vision | ||
|---|---|---|---|---|---|---|---|---|---|---|
| |
|
exam |
onset |
|
|
|
|
Cones |
Rods |
|
| I:1 |
F |
54 |
Early childhood |
photophobia |
CF; CF* |
−10.0; −10.0 |
macular atrophy |
N/A |
N/A |
N/A |
| II:1 |
M |
31 |
Early childhood |
photophobia |
0.04; 0.04 |
−11.0; −10.0 |
macular atrophy |
N/A |
N/A |
abnormal |
| II:2 |
M |
29 |
8 years |
photophobia |
0.05; 0.1 |
−8.75; −7.00 |
macular atrophy |
reduced |
normal |
abnormal |
| II:4 |
M |
28 |
7 years |
photophobia |
0.03; 0.03 |
−7.00; −4.75 |
macular atrophy |
reduced |
normal |
abnormal |
| II:7 |
M |
26 |
Early childhood |
photophobia |
0.05; 0.04 |
−2.75; −0.25 |
macular atrophy |
reduced |
normal |
abnormal |
| II:8 |
F |
19 |
6yrs |
photophobia |
0.1; 0.1 |
−6.00; −7.00 |
macular atrophy |
N/A |
N/A |
abnormal |
| III:1 |
F |
2.5 |
N/A |
no symptom |
N/A |
+0.25; plano |
macular white spots |
reduced |
normal |
N/A |
| III:2 | F | 0.75 | N/A | no symptom | N/A | −2.25; −1.00 | macular white spots | reduced | normal | N/A |
Note: *This patient had horizontal nystagmus and mild cortical opacity of both lenses.