Table 3. Clinical characteristics of patients enrolled in this study.
| Case | RS1 mutation | Age at Dx | Symptom | VA/BCVA (R/L) | FS/PS | ERG | OCT | Ocular comorbidities |
|---|---|---|---|---|---|---|---|---|
| 1 |
p.R197H |
14 Y |
Poor VA, R |
(0.02/0.3)/(0.04/0.4) |
B/B, inferior |
NT |
NT |
not found |
| 2 |
p.R197C |
4 Y |
Poor VA, R |
(0.02/0.2)/(0.02/0.2) |
B/B, inferior |
Reduced b wave |
NT |
R, VH |
| 3 |
p.C142W |
5 Y |
Poor VA |
(0.15/0.15)/(0.15/0.15) |
B/not found |
NT |
NT |
not found |
| 4 |
c.78+1G>T |
3 Y |
Poor VA |
(0.15/FC 50 cm)/(0.2/FC) |
B/B, inferior |
NT |
NT |
not found |
| 5 |
p.L216P |
5 Y |
Familial history of poor VA |
(0.2/0.15)/(0.3/0.2) |
B/B, inferior |
NT |
NT |
not found |
| 6 |
p.V76G |
8 M |
Esodeviation since 5 M |
(Mod/mod F&F)/(Mod/mod F&F) |
B/B, inferior |
Reduced b wave |
NT |
R, ISH |
| 7 |
p.R102Q |
1 Y |
Esodeviation |
(Mod/mod F&F)/(0.3/0.04) |
B/B, inferior |
NT |
NT |
L, VH |
| 8 |
c.78+5G>A |
3 Y |
Poor VA since 11 M |
(0.06/0.3)/(0.06/0.3) |
B/B, inferior |
NT |
NT |
B, VH |
| 9 |
p.E72K |
6 Y |
Poor VA |
(0.02/0.1)/(0.2/0.4) |
B/not found |
Reduced b wave |
NT |
not found |
| 10 |
p.R213Q |
3 Y |
Esodeviation at 12 M |
(0.1/HM)/(0.15/FC) |
B/B, inferior |
NT |
NT |
L, congenital cataract |
| 11 |
p.R209C |
6 Y |
Visual disturbance |
(0.3/0.3)/(0.4/0.4) |
B/R, inferior |
NT |
NT |
not found |
| 12 |
p.R182C |
3 M |
Esodeviation |
(Mod/mod F&F)/(0.08/0.04) |
B/R, temporal & L, total |
Reduced b wave |
NT |
B, VH&ISH |
| 13 |
not found |
1 M |
Abnormal fundus findings with history of premature birth |
(Poor/poor F&F)/NT |
B/B |
Flat b wave |
NT |
B, VH&SRH |
| 14 |
p.R182C |
6 Y |
Poor VA, R |
(0.2/0.3)/(0.2/0.3) |
B/B, inferior |
NT |
NT |
B, VH |
| 15 |
p.E72Q |
6 Y |
Poor VA |
(0.3/0.3)/(0.3/0.3) |
B/L |
Reduced b wave |
B, FS |
not found |
| 16 |
p.E72K |
6 Y |
Poor VA |
(0.15/0.15)/(0.3/0.2) |
B/not found |
Reduced b wave |
B, FS |
not found |
| 17 | p.R213W | 3 Y | Esodeviation | (0.2/0.2)/(0.3/0.2) | B/B | Reduced b wave | B, FS&PS | not found |
The clinical characteristics of Korean XLRS patients are summarized with their mutations. Abbreviations: diagnosis (Dx); visual acuity (VA); best corrected visual acuity (BCVA); foveal schisis (FS); peripheral schisis (PS); electroretinography (ERG); optical coherence tomography (OCT); years (Y); months (M); bilateral (B); right (R); left (L); finger counting (FC); fix and follow (F&F), hand movement (HM); moderate (mod); not tested (NT); vitreous hemorrhage (VH); intraschitic hemorrhage (ISH); subretinal hemorrhage (SRH).