Table 5.
Clinical Features of Patients With RPGR-RP Stratified According to the Localization of the Variant (Exons 1–14 vs. ORF15)
| Exon 1–14 | ORF15 (12 Unrelated | |||||
|---|---|---|---|---|---|---|
| Parameters | (19 Unrelated Patients) | Patients) | P Value | |||
| Age, y | 26.2 ± 12.5 | 33.3 ± 19.1 | 0.223 | |||
| Self-reported age of onset, y | 6.3 ± 5.0 | 7.6 ± 5.4 | 0.492 | |||
| Disease length, y | 20 ± 12.6 | 25.7 ± 18.9 | 0.321 | |||
| Mean refractive error, D | −3.9 ± 2.9 | −3.6 ± 3.4 | 0.774 | |||
| High myopia | 7 (36.8%) | 3 (25.0%) | 0.697 | |||
| Typical RP | 10 (52.6%) | 9 (75.0%) | 0.274 | |||
| Vitreomacular alteration | 4 (21.1%) | 2 (16.7%) | 1.000 | |||
| Detectable photopic ERG | 10 (52.6%) | 6 (50.0%) | 1.000 | |||
| Hyperautofluorescent ring | 6 of 12 (50.0%) | 3 of 7 (42.9%) | 1.000 | |||
| Annual BCVA decline (best-seeing eye) | 0.011 ± 0.004 (P = 0.003) |
0.044 ± 0.001 (P < 0.001) |
< 0.001 | |||
| Mean Difference | ||||||
| Estimation Beta (P Value) | ||||||
| Right Eye | Left Eye | Right Eye | Left Eye | Crude | Age-Adjusted | |
| BCVA, logMAR | 0.34 ± 0.42 | 0.34 ± 0.41 | 0.76 ± 0.79 | 0.86 ± 0.81 | 0.47 (0.044) | 0.32 (0.063) |
| EZ-band width, µm | 1492 ± 634 | 1518 ± 700 | 1184 ± 715 | 1224 ± 796 | −301.1 (0.345) | −216.2 (0.469) |
| MMT, µm | 239.6 ± 45.8 | 240.0 ± 44.1 | 205.7 ± 41.0 | 205 ± 44.7 | −34.4 (0.075) | −34.1 (0.095) |
| Photopic ERG (b-wave amplitude), µV | 17.8 ± 8.1 | 23.9 ± 16.4 | 28.3 ± 32.6 | 30.8 ± 33.7 | 8.68 (0.613) | −5.65 (0.706) |
| Photopic ERG (b-wave implicit time), ms | 43.5 ± 1.9 | 43.5 ± 3.0 | 44.0 ± 1.1 | 41.6 ± 2.5 | 1.6 (0.442) | 1.3 (0.571) |
| 30 Hz Flicker ERG (trough-to-peak amplitude), µV | 10.2 ± 8.5 | 10.1 ± 6.3 | 14.3 ± 17.4 | 15.7 ± 15.1 | 4.8 (0.451) | 4.42 (0.305) |
| 30 Hz Flicker ERG (implicit time), ms | 48.6 ± 10.5 | 48.7 ± 9.9 | 49.9 ± 5.5 | 37.2 ± 7.7 | −3.5 (0.245) | −3.1 (0.299) |
| MS, dB | 2.9 ± 3.5 | 4.3 ± 4.8 | 2.5 ± 4.1 | 2.4 ± 5.3 | −1.18 (0.58) | −0.87 (0.696) |