This is consistent with the observations made by Hull et al. who proposed that retinal disease secondary to NR2E3 variants is progressive, and showed this in their paediatric population, describing a sequence of change from a normal fundus appearance to RPE mottling along the arcades, with development of white dots with subsequent deposition of nummular pigment [10]. This evidence concerns the gene NR2E3 and Abnormal retinal morphology.