Bosch-Boonstra-Schaaf Optic Atrophy Syndrome: Visual Challenges and Ophthalmic Features
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare genetic disorder resulting from mutations in the NR2F1 gene, known for its role in brain and ocular development. The syndrome, initially described by Bosch, Boonstra, and Schaaf, presents a spectrum of symptoms, with significant ophthalmologic involvement being central to its clinical picture. Visual impairment is often among the first indicators and a major contributor to the overall impact of the condition on affected individuals.