53 - Congenital anomalies of the optic discs

Abstract

Congenital optic disc anomalies commonly present to the pediatric ophthalmologist with nystagmus and poor vision when bilateral, and sensory strabismus when unilateral. These anomalies may be categorized into those characterized by failure of ganglion cell development or survival, excavated optic nerve anomalies, and other anomalies. Failure of retinal ganglion cell development or survival occurs in optic nerve aplasia and hypoplasia. Optic nerve hypoplasia is the most common congenital optic disc anomaly and the leading ocular cause of pediatric visual impairment in developed countries. Excavated optic nerve anomalies include optic nerve colobomas (the second most frequent congenital optic nerve anomaly), morning glory disc anomaly, congenital optic disc pit, papillorenal syndrome, and peripapillary staphyloma. Other congenital optic disc anomalies include megalopapilla, congenital tilted disc syndrome, congenital optic disc pigmentation, myelinated retinal nerve fibers, Aicardi syndrome, optic disc dysplasia, and pseudopapilledema. Several congenital optic disc anomalies are associated with ocular and systemic complications, which may lead to serious consequences, including sudden death, if undiagnosed. Therefore, accurate diagnosis and appropriate systemic investigation are critical in children with congenital optic disc anomalies.