NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome: BBSOAS (OMIM 615722) is an autosomal dominant disorder resulted from the muation of NR2F1, which is characterized by optic nerve atrophy (ONA), intellectual disability (ID), developmental delay (DD) and so on.[1,2]In clinical practice, BBSOAS is easily diagnosed after birth based on molecular genetic testing combined with specific phenotypes.