So far, a total of 44 patients with BBSOAS including our case are counted with heterozygous NR2F1 variants, 43 individuals in the related literatures (Table 1),[3–6,10–17] of which 35 patients exist point mutations or inframe deletions or insertions in the DBD, 9 individuals present with the deletion fragments on the chromosme 5q14.3q15 including NR2F1 gene and the range of deleted sizes from 0.2 to 7.94 Mb. Here, NR2F1 is linked to Bosch-Boonstra-Schaaf optic atrophy syndrome.