Of these patients, seven had monoallelic pathogenic variants in ABCA4, one had biallelic variants of uncertain significance (VUS) in ABCA4, two had monoallelic VUS in ABCA4, and eight harbored VUS in other retinal dystrophy-related genes, including KCNV2, RIMS1, CRB1, CFH, RP1L1, UNC119, and SEMA4A (Table 3). The gene discussed is ABCA4; the disease is Retinal dystrophy.