Congenital Optic Disc Anomalies-A Picture is Worth a Thousand Words!

Congenital optic disc anomalies are uncommon causes of vision loss that may be recognized shortly after birth but may also be identified in later childhood and sometimes well until adulthood. They may be unilateral or bilateral and isolated or associated with other systemic findings. In some conditions the origin of the developmental abnormality is understood as in the case of optic disc colobomas resulting from failure of closure of the embryonic fissure whereas in others the cause is hypothetical. Recognition of these anomalies is usually by direct observation though ancillary testing may aid in the diagnosis. Understanding the spectrum of congenital optic disc anomalies can help the clinician with diagnosis and treatment, counsel the patient and their family regarding prognosis, and to recognize when further evaluation is indicated.