NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome: The haploinsufficiency of NR2F1, a transcription factor for neural development, can lead to several key features of BBSOAS—developmental delay, autism-spectrum disorder, and seizures—and ocular findings such as optic atrophy/hypoplasia and cortical vision loss consistent with our patient’s phenotype [19].