Congenital Disc Anomalies



Congenital anomalies of the optic nerve are frequently encountered and overlooked in optic nerve disorders. Optic discs can be abnormally small, as in optic nerve hypoplasia, or very large, as in megalopapilla. Localized disc abnormalities can be in the form of segmental optic nerve hypoplasia, homonymous hemioptic hypoplasia, or congenitally tilted discs.

Various excavations of the disc consist of morning glory disc anomalies, optic disc colobomas, peripapillary staphylomas, and optic disc pits and dysplasias. It is important to recognize that some congenital disc abnormalities are associated with systemic disorders that affect mortality. For example, the morning glory disc anomaly is associated with transsphenoidal encephalocele that can cause panhypopituitarism.

Elevated disc anomalies, such as disc drusen, hyaloid system remnants, and myelinated nerve fibers, can mimic other acquired optic neuropathies, such as papilledema, which can be an urgent neuro-ophthalmic problem. Congenital disc pigmentation should also be distinguished from other malignant melanocytic lesions. Therefore, it is important to recognize and understand the differentiating features of congenital and acquired optic neuropathies to avoid expensive workups to rule out serious disorders for accurate diagnosis and treatment. The type of developmental abnormality determines the visual prognosis.


Optic Disc Retinal Nerve Fiber Layer Visual Field Defect Visual Evoke Potential Myelinated Nerve Fiber 
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 2014

Authors and Affiliations

  1. 1.Department of Neurology, Neuro-OphthalmologyUniversity of Nevada School of MedicineRenoUSA

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