Importantly, all 3 of them presented with progressive rod-cone dystrophy, although 1 of the patients was recruited under “early-onset severe rod-cone dystrophy.” In the latter case, an additional homozygous nonsense variant was identified in SPATA7 (autosomal recessive retinitis pigmentosa type 94 and Leber congenital amaurosis type 3, MIM #604232), suggesting that this individual could have a more severe digenic retinal disease. The gene discussed is SPATA7; the disease is Cone rod dystrophy.