At present, obtaining a genetic diagnosis for STGD1 is relatively straight forward in identifying biallelic pathogenic variants in the coding regions of ABCA4. With the use of cost-effective target panel capture systems with next-generation sequencing (NGS) [14] and the development of single molecule molecular inversion probes for whole gene sequencing of ABCA4 [15], the solve rate has stabilised for STGD1 diagnosis at ~95%, if including monoallelic cases with strong phenotypic indicators of STGD1 [16]. The gene discussed is ABCA4; the disease is severe early-childhood-onset retinal dystrophy.