(BBSOAS) is a rare, autosomal dominant, neurological disorder caused by a disruption in the NR2F1 gene.
The NR2F1 genetic mutation is characterized by a broad range of clinical features including
vision impairment- caused by optic atrophy
developmental delay
impaired intellectual development
optic atrophy
About NR2F1
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
There are currently a few hundred known cases of BBSOAS worldwide with diagnoses rapidly increasing every month.
To learn more about NR2F1, check out The NR2F1 Foundation on their website here
