Optic nerve aplasia: a rare entity
Optic nerve (ON) aplasia is a rare developmental anomaly comprising of absence of the ON, ganglion cells and the central retinal vessels. It may be accompanied by a variety of central nervous system (CNS) malformations.

Published in the Delhi Journal of Ophthalmology, the authors report an extremely rare case of bilateral true ON aplasia occurring as an isolated CNS anomaly. A four year old girl presented to us with the parents noticing the right eye to be smaller than the left one since birth.

On examination, the right eye had no perception of light with microcornea and mild enophthalmos. The right pupil did not react to direct light stimulation (APD) and there was no consensual reaction. Fundus of the right eye showed absence of the optic disc and central retinal vessels. Spectral Domain Optical coherence tomography (SD-OCT) of the right eye showed significant thinning of retinal nerve fibre layers.

Ultrasound A-Scan revealed decreased axial length of the right eye. Ultrasound B-Scan showed absence of optic nerve shadow. MRI revealed that there was no recognizable right optic nerve in the anterior aspect of the orbital course, however in the posterior part, the optic nerve was seen only as a thin cord. The left eye was normal.

Flash visual evoked potential (VEP)was unrecordable in the right eye and normal in the left eye. The child did not have any other associated central nervous system (CNS) abnormalities.

Read in detail about the case here: https://pxmd.co/3cyLV
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