Congenital optic disk anomalies

Abstract

Over the past decade, a wealth of information has accumulated pertaining to the diagnosis and management of patients with congenital optic disk anomalies. As new examples of each entity have been detailed, the diagnostic criteria for each anomaly have become more clearly defined. The advent of sophisticated noninvasive neuroimaging techniques has further refined our ability to accurately detect and categorize the associated CNS anomalies that complicate many of these conditions. In light of recent findings, this review will critically examine many of the well-entrenched concepts pertaining to the diagnosis, evaluation, and treatment of patients with congenital optic disk anomalies. In so doing, it will attempt to dispel some longstanding misconceptions that pervade the literature and obscure our understanding of the pathogenesis, neuroradiological associations, and systemic implications of each anomaly.