ABCA4 c.4539 + 2028C > T and ABCA4 c.4539 + 2001G > A were the first reports of a pseudoexon inclusion in inherited retinal disease due to the creation of novel exon splice enhancer motifs, as opposed to the direct creation of cryptic splice acceptor/donor sites25. Here, ABCA4 is linked to Abnormal retinal morphology.