Optic nerve aplasia: Case report and literature review

Abstract

Purpose:To report three cases of optic nerve aplasia (ONA).Case Report:Herein three subjects with ONA are described, two subjects had unilateral involvement. In one of these cases, the fellow eye had an associated persistent hyperplastic primary vitreous (PHPV). The third patient had bilateral ONA with multiple intracranial anomalies. Previous reports are reviewed and reported findings are summarized. Orbital and brain magnetic resonance imaging (MRI) were normal in two of our cases and loss of corpus callosum in the third case. Narrow optic nerve was observed on the right side and normal appearance in other two patients.Conclusion:The diagnosis of optic nerve abnormalities in children requires a thorough ophthalmic examination and proper ancillary testing. Although MRI is valuable in the diagnosis of associated central nervous system anomalies, the optic nerve may appear in normal size and course on MRI images and thus one may not be able to diagnose ONA in eyes with opaque media.

A case of occult bilateral optic nerve aplasia with pituitary dysfunction: hidden anomaly missed on ultrasound

“…Other hormonal anomalies associated with SOD include hypogonadism and adrenal insufficiency, which can cause sudden cardiac death 7. Other CNS associations of bilateral ONA include anencephaly, cerebral atrophy, basal encephalocoele, hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and posterior fossa cysts 3–5. These anomalies were not present in our patient while corpus callosum was formed (figure 2).…”

“…In contrast, bilateral ONA and optic nerve hypoplasia are more frequently associated with occult neurological and endocrine abnormalities 5. The severity of endocrinological abnormalities, developmental delay, and risk of hypothalamic and pituitary dysfunction, is greater with presence of midline neurological defects.…”

“…Associated malformations of the eye include microphthalmos, cataract, retinal dysplasia, coloboma of the iris and ciliary body, iris hypoplasia, malformation of the chamber angle and persistent hyperplastic primary vitreous 1–4. Rarely, malformation of the CNS like hydranencephaly, orbital meningoencephalocele and anencephaly may also be seen along with unilateral ONA 5 6. Since not much can be done for visual rehabilitation and most of these associated cranial malformations would manifest early on their own, late diagnosis of unilateral ONA may be of minimal consequence.…”

Veränderungen der Papilla nervi optici im Kindesalter

“…Häufig liegt eine Kombination mit weiteren Fehlbildungen des Auges vor. Fehlbildungen des Zentralnervensystems sind dagegen mit der seltenen Form einer bilateralen Aplasie assoziiert [6].…”

Rare case of unilateral optic nerve aplasia

“…Optic nerve aplasia is a rare congenital malformation consisting of complete absence of the optic nerve and its constituents, namely, the optic papilla, retinal ganglion cells and retinal vessels 1. The optic nerve arises from a stalk of neural tube cells, but the axons within the nerve arise from the ganglion cells, which are formed within the retina.…”