Proband WGS research testing was available at the time of review and examination of Stargardt and macular dystrophy genes by WGS identified single exon heterozygous 1029bp deletion involving exon 18 of ABCA4, in addition to the pathogenic variant c.5461-10T>C (Figure 5E). The gene discussed is ABCA4; the disease is Macular dystrophy.