Although mutations in ABCA4 cause over 95% of STGD, patients harbouring variants in this gene may also display different phenotypes: cone-rod dystrophy 3 (CRD3, MIM #604116), and retinitis pigmentosa 19 (RP19, MIM #601718) [5]. The gene discussed is ABCA4; the disease is severe early-childhood-onset retinal dystrophy.