Optic nerve anomalies are rare entities with a variety of clinical presentations. They can be classified according to anomalies of disc size, disc conformation, or by the presence of abnormal tissue on the optic nerve head, or pseudoswelling. Here, we present a child with an incidental finding of an anomalous left optic nerve on routine fundus examination. His exam was notable for a focal, infero-temporal area of excavation at his optic nerve head, an adjacent hyperpigmented crescent, and aberrant, radiating blood vessels off his peripheral optic nerve tissue. Based on clinical exam and OCT findings, he was ultimately diagnosed with an optic nerve pit. Our case reviews the epidemiology, pathophysiology, diagnosis, and management of optic nerve pits. While their diagnosis is mostly based on clinical exam, OCT and visual field testing are useful adjuncts to monitoring the progression of optic nerve pits. Key to the diagnosis is distinguishing optic nerve pits from other conformation anomalies that have more serious associated systemic abnormalities. Moreover, unlike other conformation optic nerve head anomalies, optic nerve pits are more commonly associated with serous maculopathies, which can potentially lead to more serious vision loss. Because of its controversial pathogenesis, optic nerve pit maculopathies are difficult to treat, and targeted treatment guidelines are lacking. However, newer studies in the literature illustrate promising functional and anatomical outcomes with pars plana vitrectomy.
Presentation Date: 07/14/2022
Issue Date: 07/29/2022
Continuing Medical Education (CME)