Table 3.
Clinical characteristics of the probands in which RPGR variants were identified and of the other probands. The pathology was considered familiar if other cases were present in their clinical familiar history. All the analyzed patients were unrelated.
| Characteristics | Patients with RPGRORF15 Mutation (n = 8) | Case Subjects (n = 67) | p-Value | |
|---|---|---|---|---|
| Age (years) | Mean | 35 ± 11 | 53 ± 15 | <0.05 |
| Median | 36 ± 11 | 53 ± 15 | ||
| Females/Males | 4/4 (50%/50%) | 31/36 (46%/54%) | - | |
| Diagnosis | Hereditary non-syndromic retinal dystrophies | 0 (0%) | 5 (7%) | - |
| Retinitis pigmentosa | 3 (37.5%) | 53 (79%) | ||
| Cone dystrophy | 2 (25%) | 6 (9%) | ||
| Macular dystrophy | 3 (37.5%) | 3 (5%) | ||
| Age of onset (years) | Mean | 13 ±11 | 27 ± 16 | <0.05 |
| Median | 10 ± 11 | 27 ± 16 | ||
| Unknown | n = 0 | n = 8 | ||
| Familiarity | Familiar | 2 (25%) | 24 (36%) | - |
| Sporadic | 3 (37.5%) | 37 (55%) | ||
| Unknown | 3 (37.5%) | 6 (9%) |