Specifically, Sanger sequencing of ABCA4, PRPH2/RDS-peripherin, and ELOVL4 was negative except for Proband 1, who had a heterozygous ABCA4 missense variant (c.2588G>C; p.Gly863Ala) and no family history of Stargardt disease or cone-rod dystrophy. The gene discussed is ABCA4; the disease is Stargardt disease.