Table 3 of Kim, Mol Vis 2009; 15:833-843. Table 3 of Kim, Mol Vis 2009; 15:833-843.
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 |