Pathogenic NR2F1 Variants Cause a Systemic Neurodevelopmental Ocular Phenotype Recapitulated in a Mutant Mouse Model

Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder - Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS). Although visual loss is a prominent feature seen in affected individuals, the molecular and cellular mechanisms contributing to optic nerve involvement remain unknown. In addition to investigation of the molecular and cellular mechanisms by which pathogenic NR2F1 variants impact on the development of the neural retina and the optic nerve, this study aimed to characterise the structural and functional changes within the visual pathway in affected individuals.