Optic nerve aplasia: A case series

Abstract

Optic nerve aplasia (ONA) is a congenital optic nerve anomaly characterized by the absence of optic nerve head, retinal blood vessels, retinal ganglion cells, and optic nerve fibers in a malformed eye. Clinically, the condition presents with the absence of perception of light, afferent pupillary defect and a fundus appearance of absent optic nerve head, and retinal vessels with associated ocular and nonocular abnormalities. Systemic anomalies have been reported with bilateral ONA, whereas unilateral ONA is seen in otherwise healthy individuals. We report three cases of ONA with varied clinical presentations.

Bilateral optic nerve aplasia with corpus callosum hypogenesis in an otherwise healthy child: Report of a rare case

“…True ON aplasia is characterised clinically by blindness (no light perception), absent disc, absent central and branch retinal vessels, and afferent papillary defect. [456] The left eye of the child in our case showed no light perception, abnormal pupillary reaction, absent disc, and absent retinal vessels. MRI brain and orbit in the left eye showed absent ON with poorly developed chiasm and LGB; USG B scan showed the absence of ONH shadow while VEP in the left eye was unrecordable.…”

“…Other ocular abnormalities seen in ON aplasia include microphthalmos, ptosis, squint, microcornea, iris hypoplasia, iris coloboma, aniridia, retinochoroidal coloboma, and persistent hyperplastic primary vitreous. [267] Our case had microcornea, tessellated fundus, and chorioretinal atrophic patches in both the eyes; iris hypoplasia in the right eye; and retino choroidal coloboma in the left eye.…”

“…Cases with documentation of bilateral ON aplasia are updated in Table 1. [1256789] However, the case reported by Storm et al . [8] strictly speaking represents optic disc hypoplasia because there was a normal pupillary reflex in addition to the presence of a small disc.…”

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).…”

“…Unilateral aplasia of the optic nerve is often present in malformed eyes, with no abnormality in brain tissue. 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.…”