An autosomal dominant congenital anomaly of the OPTIC DISK. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the SEPTUM PELLUCIDUM, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the PITUITARY GLAND. Mutations in the PAX6 gene have been identified. OMIM: 165550
