Unilateral optic nerve aplasia associated with rudimental retinal vasculature

Abstract

Optic nerve aplasia (ONA) is a rare congenital malformation characterized by absence of optic disk, optic nerve, retinal ganglion cells, and central retina vessels. It is frequently associated with other ocular and central nervous system anomalies. In this paper, we describe a case of ONA associated with microphthalmos and a rudimental retinal vasculature in an otherwise healthy infant.

Optic nerve aplasia: Case report and literature review

“…[ 2 3 5 6 7 8 9 10 11 ] In the current review, previous reports have been updated [ Table 1 ]. [ 12 13 14 15 16 17 18 19 20 ] According to Scheie and Adler before 1976, there were six true cases of ONA. [ 21 ]…”

“…Absence of ganglion cells, optic nerve fibers and retinal vessels in eyes with ONA have been described before. [ 5 12 13 26 27 28 29 30 31 ] Other reported abnormalities include the presence of retinal pigment epithelium over the area of the optic disc, remnants of the dural sheath, rudimentary retinal vessels entering the posterior pole in a chaotic manner,[ 2 27 32 ] retinal hypoplasia, rosette formation in the retina and hypoplasia of the ciliary body. [ 5 33 ] The inner layers of the retina were more markedly hypoplastic than the outer layers and the nerve fiber layer was extremely attenuated and scarcely recognizable resulting in reduced volume of the ipsilateral chiasma and optic tract without any degenerative or reactive changes in these areas.…”

Optic Nerve Hypoplasia; Case Report

“…In the past, eyes with ON aplasia have been reported to lack optic nerve fibres, ganglion cells and retinal blood vascular structures (5,7). Onesided ON aplasia is usually related to normal brain development, whereas most two-sided forms are associated with CNS dysfunction (8).…”