Optic Nerve Hypoplasia

Congenital anomalies of the optic disc underlie many cases of decreased vision, strabismus, and nystagmus in childhood. A comprehensive evaluation necessitates an understanding of the ophthalmoscopic features, associated neuro-ophthalmologic findings, pathogenesis, and appropriate ancillary studies for each anomaly. The subclassification of different forms of “colobomatous” defects on the basis of their ocular and systemic associations has further refined our ability to predict the likelihood of associated central nervous system (CNS) anomalies solely on the basis of the appearance of the optic disc. The widespread availability of modern neuroimaging has refined our ability to identify subtle associated CNS anomalies and to prognosticate neurodevelopmental and endocrinological problems. Genetic analysis has now advanced our understanding of some anomalies. Four clinical axioms can be used to guide the general evaluation and management of children with congenital optic disc anomalies: