EPOS

European Paediatric Ophthalmological Society

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40 Optic Nerve Aplasia

Dureau P., Roche O., Uteza Y., Dufier J.-L.
Department of Ophthalmology, Necker-Enfants Malades Hospital, Paris, France

Purpose: Optic nerve aplasia is a rare congenital malformation in which the optic disc, ganglion cells, optic fibers and retinal vessels are absent. We observed two cases of this condition, confirmed by MRI.

Methods: One child was referred for unilateral microphthalmia, and the other one for apparent poor vision. The clinical investigations were conducted under general anesthesia (anterior segment, fundus, intraocular pressure) and completed by electrophysiological testing and MRI.

Results: One case was unilateral with microphthalmia and the other one bilateral. Fundus revealed in both cases an absence of retinal vessels, of the retina and optic nerve, associated to depigmentation areas of the retinal pigment epithelium. Electoretinogram was flat in the affected eyes. MRI confirmed the aplasic appearance of the optic nerve.

Conclusion: Optic nerve aplasia is different from optic nerve hypoplasia, which is less unfrequent. This condition requires a complete examination of ocular structures and neuroradiological investigations in order to research the presence of associated malformations. Physiopathology is unclear, possibly related to an early trouble of organogenesis or a later degeneration of optic nerve fibers.