Overall, the PROM1 variant is associated with multiple diseases with overlapping phenotypes, such as retinitis pigmentosa, cone–rod dystrophy, Stargardt-like macular dystrophy, and bull’s eye macular dystrophy (Littink et al., 2010; Boulanger-Scemama et al., 2015; Birtel et al., 2018b; Michaelides et al., 2010). Here, PROM1 is linked to retinal macular dystrophy type 2.