Subsequent Sanger sequencing of the ABCA4 Stargardt disease gene, located on chromosome 1, uncovered a homozygous pathogenic deep intronic variant (Chr1(GRCh37):g.94546780C>G NM_000350.2(ABCA4):c.859‐506G>C) leading to a pseudo‐exon in a substantial proportion of the ABCA4 transcripts (Khan et al., 2020). This evidence concerns the gene ABCA4 and Stargardt disease.