Table 3. Clinical information of eight subjects with the mutations in our study.
| Mutation | Gender | Age (years) at |
Spherical refraction (diopters) |
Axial length (mm) |
BCVA |
ERG responses |
|||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| exam | onset | OD | OS | OD | OS | OD | OS | rod | cone | ||
| c.626G>C |
M |
5 |
EC |
−9.00 |
−10.00 |
25.28 |
24.93 |
0.3 |
0.2 |
absent |
diminished |
| c.121delG |
M |
31 |
EC |
−16.00 |
−9.50 |
29.87 |
27.66 |
0.2 |
0.4 |
absent |
diminished |
| c.335T>C |
M |
11 |
EC |
−10.00 |
−11.00 |
N/A |
N/A |
0.5 |
0.5 |
N/A |
N/A |
| c.529–530GC>AT |
M |
15 |
EC |
−21.00 |
−20.00 |
30.71 |
30.38 |
0.5 |
0.6 |
normal |
SD |
| c.529–530GC>AT I1 |
M |
37 |
EC |
−5.50 |
−5.25 |
24.39 |
24.37 |
1.0 |
1.0 |
normal |
normal |
| c.529–530GC>AT I2 |
F |
39 |
None |
−0.25 |
−0.12 |
23.88 |
24.01 |
1.0 |
1.0 |
normal |
normal |
| c.529–530GC>AT II2 |
M |
13 |
EC |
−7.00 |
−4.50 |
26.12 |
25.18 |
0.6 |
1.0 |
normal |
SD |
| c.529–530GC>AT II3 | M | 9 | EC | −11.37 | −7.50 | 27.93 | 26.95 | 0.2 | 0.6 | normal | SD |
Abbreviations: BCVA: best corrected visual acuity; ERG: electrophysiology; EC: early childhood; M: male; F: female; OD: right eye; OS: left eye; SD: slightly diminished; N/A: not available.