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Congenital anomalies and acquired abnormalities of the optic nerve

Karl C Golnik, MD, MEd
Section Editor
Evelyn A Paysse, MD
Deputy Editor
Carrie Armsby, MD, MPH


The normal optic nerve head (optic disc) usually is round or oval and pink in color; typically it is flat or mildly elevated and has a central depression called the cup (picture 1). The horizontal diameter of the normal optic nerve is approximately 1.5 mm. The ratio between the cup and disc diameters is important to note because acquired optic nerve damage can cause cupping, an increase in the cup/disc ratio.

Optic nerve abnormalities can be categorized as congenital or acquired. Congenital optic nerve anomalies are distinguished by the appearance of the optic disc and surrounding retina. As a general rule, these anomalies are classified according to abnormalities of optic disc size or conformation and by the presence of abnormal tissue at the nerve head (pseudoswelling). Acquired abnormalities of the optic nerve are classified according to the reaction of the optic nerve to insult: cupping, swelling, and atrophy.


Disc size — The optic nerve head may be absent (aplasia), small (hypoplasia), or large (megalopapilla).

Aplasia — Optic nerve aplasia is an extremely rare, nonhereditary occurrence of unknown etiology. It is characterized by complete lack of the optic nerve, disc, retinal nerve fiber layer, ganglion cells, and retinal vasculature [1,2]. Optic nerve aplasia typically is associated with a variety of other ocular malformations, including microphthalmia, cataract, anterior chamber angle malformation, retinal dysplasia, anterior coloboma (fissure or cleft of the iris or ciliary body), iris hypoplasia, and persistent fetal vasculature (formerly called persistent hyperplastic primary vitreous). Although individuals who are affected unilaterally usually are healthy otherwise, with rare exception, bilaterally affected individuals die shortly after birth [3,4].

Hypoplasia — Optic nerve hypoplasia is the most common congenital optic disc anomaly [5]. In a population-based study (1984-2008), the annual incidence was 2.4 per 100,000 children <19 years (1 in 2287 live births) [6].

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Literature review current through: Nov 2017. | This topic last updated: Jul 25, 2017.
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