PRPH2 is associated with a wide range of clinical phenotypes, including: AD central areolar choroidal dystrophy (CACD, MIM: 613105), AD macular pattern dystrophy (MPD, MIM: 169150), AD vitelliform macular dystrophy (MIM: 608161), AD/AR retinitis punctata albescens (MIM: 136880), AD/AR RP (MIM: 608133) and AR LCA/EOSRD (LCA18, MIM: 608133). Here, PRPH2 is linked to retinitis pigmentosa 1.