ABCA4 and Stargardt disease: Although it was initially identified as a sequence variant without significant functional consequence (Rivera et al., 2000), recent reports suggest that this mutation results in a decreased expression level of wild type ABCA4 and splicing defects with exons 39/40 skipped, leading to frameshift and premature stop, playing a causative and a pathological role in Stargardt disease (Sangermano et al., 2016; Aukrust et al., 2017; Jonsson et al., 2018).