It is predominantly associated with mutations in the ABCA4 gene (Stargardt disease type 1 [STGD1]),1 although autosomal dominant variants have been linked to mutations in PRPH2, ELOVL4 (STGD3), and PROM1 (STGD4).2 The gene discussed is ABCA4; the disease is severe early-childhood-onset retinal dystrophy.