PRPH2 and Menkes disease: Although the mechanism of action of PRPH2 gene alterations is still not completely understood [8], different related clinical pathological presentations have been described: pattern dystrophy (PD), multifocal pattern dystrophy simulating fundus flavimaculatus (PDSFF), macular dystrophy (MD), Stargardt disease (SD), retinitis pigmentosa (RP), adult-onset vitelliform macular dystrophy (AVMD), extensive chorioretinal atrophy (ECA) and central areolar choroidal dystrophy (CACD) [7,9,10,11,12].