We identified a novel CSS variant downstream exon 17, c.2653+1G>A, in a French STGD1 proband that carried the prior characterized c.735T>G, p.(Tyr245*) variant in trans. Since this case displayed late-onset STGD1, it allowed to hypothesize that c.2653+1G>A leads to translation of ABCA4 with significant remaining functionality. This evidence concerns the gene ABCA4 and severe early-childhood-onset retinal dystrophy.