The IRD genotypes represented in the amblyopia group were those associated with retinitis pigmentosa (n = 30, 34.1%, MYO7A, PRPF31, RHO, RPGR, SNRNP200, USH2A), high myopia (n = 21, 23.9%, COL2A1, RPGR), LCA (n = 16, 18.2%, CRB1, GUCY2D, RDH12, RPE65) or significant hyperopia (n = 14, 15.9%, BEST1, RS1). The gene discussed is COL2A1; the disease is amblyopia.