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Congenital Optic Nerve Anomalies

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Pediatric Neuro-Ophthalmology

Abstract

Congenital anomalies of the optic disc underlie many cases of decreased vision, strabismus, and nystagmus in childhood [54, 151]. A comprehensive evaluation necessitates an understanding of the ophthalmoscopic features, associated neuro-ophthalmologic findings, pathogenesis, and appropriate ancillary studies for each anomaly [46]. 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 [46]. The widespread availability of modern neuroimaging has refined the ability to identify subtle associated CNS anomalies and to prognosticate neurodevelopmental and endocrinological problems [46]. Genetic analysis has now advanced the understanding of some anomalies. It has been recognized [194, 218, 333] that many of these disorders are accompanied by some degree of peripheral retinal nonperfusion.

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    Michael C. Brodsky (Professor of Ophthalmology and Neurology Knights Templar Research Professor of Ophthalmology)

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Brodsky, M.C. (2016). Congenital Optic Nerve Anomalies. In: Pediatric Neuro-Ophthalmology. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-3384-6_2

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