Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child.

We report a case of confirmed Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with suspected optic nerve hypoplasia, corpus callosum agenesis, and low levels of insulin-like growth factor 1. This patient's presentation demonstrates the clinical overlap of Bosch-Boonstra-Schaaf Optic atrophy syndrome with septo-optic dysplasia and the importance of genetic testing for correct diagnosis.