Congenital Optic Nerve Anomalies

  • Michael C. Brodsky


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.


Optical Coherence Tomography Optic Disc Lamina Cribrosa Myelinated Nerve Fiber Optic Nerve Hypoplasia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science + Business Media New York 2016

Authors and Affiliations

  • Michael C. Brodsky
    • 1
  1. 1.Mayo ClinicRochesterUSA

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