RPE65-linked IRD typically manifests as Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EO[S]RD), characterized by severe visual impairment from birth or early infancy with light staring and profound nyctalopia accompanied by nystagmus and poor pupillary light responses [6]. The gene discussed is RPE65; the disease is inherited retinal dystrophy.