Over the past decade, a wealth of information has accumulated pertaini
ng to the diagnosis and management of patients with congenital optic d
isk 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 f
urther refined our ability to accurately detect and categorize the ass
ociated CNS anomalies that complicate many of these conditions. In lig
ht 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 doi
ng, it will attempt to dispel some longstanding misconceptions that pe
rvade the literature and obscure our understanding of the pathogenesis
, neuroradiological associations, and systemic implications of each an
omaly.