Genetic testing revealed a pathogenic NR2F1 gene variant NM_005654.5:c.321_322del p.(Ser108Phefs*288), confirming the diagnosis of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) (OMIM:615772). The gene discussed is NR2F1; the disease is Bosch-Boonstra-Schaaf optic atrophy syndrome.