Table 2.
Clinical Characteristics of Each Phenotype Group
| Phenotype Group | Normal | BPD/VMD | CACD | PSPD | RP | P Value |
|---|---|---|---|---|---|---|
| No. of cases | 13 | 27 | 68 | 98 | 35 | |
| Sex | ||||||
| Female:male | 7:6 | 17:10 | 35:35 | 48:50 | 18:17 | 0.751a |
| Age at imaging | ||||||
| Mean ± SD | 32 ± 17 | 56 ± 13 | 53 ± 16 | 60 ± 12 | 52 ± 15 | |
| < 0.001†,‡ | ||||||
| Median (IQR) | 33 (20–40) | 56 (48–66) | 54 (42–63) | 61 (51–70) | 52 (38–62) | |
| Asymptomatic count/total (%) | 10/13 (77%) | 3/27 (11%) | 3/58 (5%) | 4/77 (5%) | 0/34 (0%) | |
| Age of symptom onset | ||||||
| Mean ± SD | 31 ± 34 | 45 ± 12 | 41 ± 13 | 44 ± 14 | 34 ± 17 | |
| 0.004†,§ | ||||||
| Median (IQR) | 20 (13–45) | 44 (40–51) | 40 (34–50) | 40 (35–53) | 33 (20–48) | |
| Better eye VA (logMAR) | ||||||
| Median (IQR) | 0 (0–0.1) | 0.02 (0–0.1) | 0.2 (0–0.7) | 0.1 (0–0.3) | 0.1 (0–0.2) | 0.002‖,¶ |
| Electrophysiology | ||||||
| Normal* | 2 | 2 | 4 | 0 | 0 | |
| Macular dystrophy | 0 | 3 | 9 | 9 | 0 | |
| Cone dystrophy | 0 | 4 | 7 | 5 | 0 | |
| Cone-rod dystrophy | 0 | 0 | 2 | 15 | 0 | |
| Rod-cone dystrophy | 0 | 0 | 0 | 15 | 23 |
*
Normal full-field and PERG.
a
χ2 test.
†
One-way ANOVA.
‡
The normal group was significantly lower than all other groups (all P < 0.001). The PSPD group was significantly higher than both the CACD (P = 0.012) and RP (P = 0.017) groups.
§
The RP group was younger than both BPD/VMD (P = 0.048) and PSPD (P = 0.015)
‖
Kruskal–Wallis test.
¶
VA for the BPD/VMD group was significantly lower than the CACD croup (P = 0.035)