The diversity of CRX-associated phenotypes mirrors the underlying genetic heterogeneity and manifests as macular dystrophy (M), cone or cone–rod dystrophies (CRD), rod-cone dystrophy (RCD) or retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA) [2]. The gene discussed is CRX; the disease is Leber congenital amaurosis.