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Optic nerve aplasia is a rare developmental anomaly characterised by the congenital absence of the optic nerve, central retinal vessels and retinal ganglion cells that is seen most often in a unilaterally malformed eye.1,2 Unilateral optic nerve aplasia is generally associated with otherwise normal brain development while bilateral optic nerve aplasia is usually accompanied by severe and widespread congenital central nervous system (CNS) malformations.1,2 We report here a unique presentation of a unilateral microphthalmos associated with bilateral optic nerve, chiasm, and tract aplasia without any CNS or systemic abnormalities.
An 11 month old girl was referred to the neuro-ophthalmology clinic because of unequal size of the eyes. She was born to non-consanguineous parents at 39 weeks gestation with a birth weight of 2750 g. …
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