Table 1.
Clinical Characteristics of PRPH2 Patients
| Characteristics | PRPH2 Cohort (n = 241) |
|---|---|
| Age at imaging (y) (n = 241) | |
| Mean ± SD | 54.8 ± 15.5 |
| Median (IQR) | 55.8 (Q1, 44.9; Q3, 66.9) |
| Range | 7–89 |
| Sex (M:F) | 118:123 |
| Age at symptom onset (n = 189) | |
| Median (IQR) | 40 (Q1, 30; Q3, 50) |
| Range | 4–78 |
| Last available VA in the right eye (n = 241) | |
| Median VA, in logMAR (IQR) | 0.18 (Q1, 0; Q3, 0.54) |
| Median VA, in Snellen equivalent (IQR) | 20/30 (Q1, 20/20; Q3, 20/80) |
| Last available VA in the left eye (n = 241) | |
| Median VA, in logMAR (IQR) | 0.18 (Q1, 0; Q3, 0.42) |
| Median VA, in Snellen equivalent (IQR) | 20/30 (Q1, 20/20; Q3, 20/60) |
| FAF, n/total (%) | |
| Normal | 13/241 (5%) |
| BPD/VMD | 27/241 (11%) |
| CACD | 68/241 (28%) |
| PSPD | 98/241 (41%) |
| RP | 35/241 (15%) |
| ERG, no/total (%) | |
| Normal ffERG and PERG | 8/100 (8%) |
| MD | 21/100 (21%) |
| COD | 16/100 (16%) |
| Cone-rod dystrophy | 17/100 (17%) |
| Rod-cone dystrophy | 38/100 (38%) |
ffERG, full-field ERG.