Bosch-Boonstra-Schaaf optic atrophy syndrome is a recently described autosomal dominant disorder, caused by loss-of-function mutations of the transcriptional regulator NR2F1. Cerebral organoids with reduced NR2F1 levels displayed altered neurogenesis and expression of PAX6, a gene that has a crucial role in neurogenesis in the developing cortex (Bertacchi et al., 2020). This evidence concerns the gene NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome.