| Secondary cone degeneration | Loss of rods eventually leads to cone cell death |
| Accumulation of pigment deposits | Bone spicule-shaped pigment clumping in the retina |
| Outer retinal atrophy | Progressive thinning of the outer nuclear layer |
| RPE dysfunction | Retinal pigment epithelium compromise |
| Autosomal dominant (30-40%) | RHO, PRPH2, RP1, ROM1 |
| Autosomal recessive (50-60%) | USH2A, EYS, PDE6B, CNGB1 |
| X-linked (5-15%) | RPGR, RP2 |
| Mitochondrial inheritance (rare) | MT-ND4, MT-CYB |
| RHO (Rhodopsin) | Most common autosomal dominant RP gene |
| USH2A | Usherin protein, also causes Usher syndrome |
| RPGR | X-linked RP, also involved in ciliary function |
| PDE6B | Cyclic GMP phosphodiesterase, rod phototransduction |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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