Initial clinical testing using the TruSight One (Illumina, San Diego, CA, USA) targeted capture approach identified a single heterozygous previously reported pathogenic variant, namely ABCA4(NM_000350.2): c.4577C>T p.(Thr1526Met), which is an established pathogenic allele reported in literature in association with Stargardt disease (https://www.ncbi.nlm.nih.gov/clinvar/variation/99303/, accessed on 11 February 2022) [18]. The gene discussed is ABCA4; the disease is Stargardt disease.