Table 5.
Summary of morphologic changes in carriers and affected dogs of two models of X-linked retinitis pigmentosa.
| XLPRA1 | XLPRA2 | |
|---|---|---|
| Mutation in RPGRORF15 and putative effect | Del (1028–1032) causes a premature stop Loss of function | Del (1084–1085) causes a frameshift Toxic gain of function |
| Carriers (current study) | ||
| Time course of patchy disease/degeneration | Observed between 20 weeks and 7.8 years | 3.9 – 39 weeks |
| Peak of cell death | ND | 5.9 weeks |
| ONL thickness in patches of disease | ||
| Early | Unchanged | Increased |
| Late | Decreased | Uniform decrease (no patchy disease) |
| Opsin (rod, M/L, S) mislocalization | Yes | Yes |
| Clumping of cones in patches of disease | Yes | Yes |
| Inner retina remodeling below patches of disease | ND | Yes (observed at 7.9 weeks) |
| Tangential displacement of non-mutant rods into patches of disease. | Limited | Yes |
| Phagocytic cells in subretinal space | ND | Yes |
| (mid) peripheral retinal atrophy at later stages | Yes | Yes |
| Affected22–24, 43 | ||
| Onset of disease | 11 months | 3.9 weeks |
| Peak of cell death | ND | 6–7 weeks |
| Progression of disease | Slow | Rapid |
| Opsin (rod, M/L, S) mislocalization | ND | Yes |
| Inner retina remodeling | ND | Yes (observed at 11.9 weeks) |
| Phagocytic cells in subretinal space | Yes | Yes |
ND: not determined