Table 2. Clinical data and molecular genetic examination results of the family with XLRS and our control group.
| Patients/ carriers number (Eye) | Mutation | Gender | Age (yrs) | Age of onset (yrs) | Macular abnormalities | BCVA | Spherical corrections (D) |
OCT |
Full-field ERG |
Scot. max. b/a ratio |
Multifocal ERG |
|||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FTmax (μm) | TMV (mm3) | Scot. max. a-wave ampl. (μV) | Scot. max. b-wave ampl. (μV) | Summed ampl. (μV) | Summed impl. (ms) | |||||||||
| IV/1 (OD) |
c.78+1G>C |
male |
7 |
7 |
foveal schisis |
0.25 |
1.75 |
505 |
8.5 |
253 |
339 |
1.34 |
49 |
37 |
| (OS) |
7 |
foveal schisis |
0.3 |
1.75 |
591 |
9.05 |
253 |
360 |
1.43 |
42 |
37 |
|||
| III/1 (OD) |
c.78+1G>C |
female |
31 |
- |
- |
1 |
- |
152 |
6.51 |
352 |
815 |
2.32 |
140 |
36 |
| (OS) |
- |
- |
1 |
- |
156 |
6.5 |
372 |
811 |
2.18 |
145 |
35 |
|||
| III/2 (OD) |
c.78+1G>C |
male |
25 |
6 |
foveal schisis |
0.42 |
- |
339 |
6.97 |
336 |
340 |
1.01 |
46 |
40 |
| (OS) |
6 |
foveal schisis |
0.42 |
- |
621 |
8.41 |
302 |
304 |
1 |
42 |
42 |
|||
| III/3 (OD) |
- |
male |
25 |
- |
- |
1 |
- |
152 |
6.74 |
- |
- |
- |
- |
- |
| (OS) |
- |
- |
1 |
- |
171 |
6.97 |
- |
- |
- |
- |
- |
|||
| II/1 (OD) |
c.78+1G>C |
female |
50 |
- |
- |
1 |
- |
189 |
6.67 |
238 |
515 |
2.16 |
99 |
37 |
| (OS) |
- |
- |
1 |
- |
175 |
6.67 |
291 |
560 |
1.92 |
94 |
37 |
|||
| Control (n=70) | - | 50-50% | 22±10 | - | - | 0.98±0.06 | - | 157±17 | 6.96±0.26 | 314±65 | 593±86 | 1.91±0.35 | 118±25 | 33±1 |
No patients displayed peripheral schisis. Patient IV/1 had the additional symptom of Mizuo-Nakamura phenomenon. Control values are means ± standard deviations (SD). YRS indicate years, BCVA represents best corrected visual acuity, D represents diopter, OCT represents optical coherence tomography, FTmax represents maximal foveal thickness, TMV represents total macular volume, and ERG represents electroretinography. The significantly increased FT and TMV values of OCT (p<0.05) and the significantly (p<0.05) decreased BCVA values, full-field and multifocal ERG amplitudes demonstrate well the morphological and functional impairment of the retina in case patients with XLRS.