ABCA4 c.1622T>C (p.Leu541Pro) and c.3113C>T (p.Ala1038Val) presented in cis in 2% of patients (n=5/210) and formed a compound heterozygote with another pathogenic or likely pathogenic ABCA4 variant, resulting in Stargardt disease. The gene discussed is ABCA4; the disease is Stargardt disease.