To our knowledge, only one large de novo deletion of 5.4 Mb encompassing CADPS2, as many other genes, was thoroughly described in a 3-year-old child with an eye disorder (attributed to the deleted TSPAN12), ASD diagnosis, dysmorphic features, and occipital epileptic discharges (Okamoto et al, 2011). This evidence concerns the gene CADPS2 and eye disorder.