In studies conducted on models carrying causative variants of PRPH2, it was indicated that loss-of-function variants, i.e., p.C214S and p.P216L, contributed to the rod-dominant retinal disease due to haploinsufficiency, while gain-of-function variants, i.e., p.C150S and p.R172W, caused cone-dominant phenotypes [23,24,25,26,27]. The gene discussed is PRPH2; the disease is Abnormal retinal morphology.