Unilateral optic nerve aplasia documented with optical coherence tomography—case report and literature review

Abstract

Optic nerve aplasia is a rare nonhereditary developmental anomaly characterized by congenital absence of the optic nerve, retinal blood vessels, retinal ganglion cells, and optic nerve fibers in a unilaterally malformed eye of an otherwise healthy individual. We report the case of a 6-year-old girl with unilateral optic nerve aplasia documented by optical coherence tomography (OCT). She had no systemic or central nervous system anomalies. Her right eye had no light perception, total afferent pupillary defect, microcornea, variable strabismus, and enophthalmos. The fundus examination showed complete absence of the optic nerve and central retinal vessels characteristic of optic nerve aplasia in the right eye. Computerized tomography and magnetic resonance imaging showed unilateral absence of the optic nerve. Spectral domain OCT showed absence of normal foveal contour, severe atrophy of the retinal layers, extremely thin choroid, and absence of the optic nerve head.