Walsh and Hoyt's Clinical Neuro-Ophthalmology

Congenital Anomalies of the Optic Disc

"Certain general principles are particularly useful in the evaluation and management of patients with anomalous optic discs."

"Certain general principles are particularly useful in the evaluation and management of patients with anomalous optic discs. 1. Children with bilateral optic disc anomalies generally present in infancy with poor vision and nystagmus; those with unilateral optic disc anomalies generally present during their preschool years with sensory esotropia. 2. CNS malformations are common in patients with malformed optic discs. Small discs are associated with a variety of malformations of the cerebral hemispheres, pituitary infundibulum, and midline intracranial structures (septum pellucidum, corpus callosum). Large optic discs of the morning glory configuration are associated with the transsphenoidal form of basal encephalocele, whereas colobomatous optic discs may be associated with a systemic anomalies and a variety of syndromes. 3. Any structural ocular abnormality that reduces visual acuity in infancy may lead to superimposed amblyopia (1). A trial of occlusion therapy may be warranted in young children with unilateral optic disc anomalies and decreased vision (2). 4. Anomalous optic discs (particularly excavated optic disc anomalies and pseudopapilledema with or without optic disc drusen) may produce episodes of transient visual loss (3-6)."