In this study, we present an overview of CNVs reported in ABCA4 to date and report the identification of 7 novel and 8 recurrent CNVs in a total of 21 alleles in previously unsolved ABCA4-associated retinopathy cases, which were analyzed by sequencing the entire ABCA4 gene locus using single-molecule Molecular Inversion Probes (smMIPs). Here, ABCA4 is linked to retinal disorder.