A step further in genetic diagnosis has been attained when deep-intronic variants that alter the splicing pattern have been identified, as is the case in Stargardt disease, a macular disorder with a very well defined clinical phenotype and a major causative gene, ABCA4. In fact, the introduction of the whole ABCA4 locus in the target NGS panels clearly helps to increase the genetic yield in Stargardt disease patients [16,17]. This evidence concerns the gene ABCA4 and Stargardt disease.