Abstract
Purpose The aim of this study was to describe the ocular findings of an 8-year-old girl with bilateral superior segmental optic nerve hypoplasia (SSONH) whose mother had a history of Type 1 diabetes mellitus and to review the prior literature concerning this association. Methods Neuroophthalmic examination, including funduscopy, visual fields, optical coherence tomography, and magnetic resonance imaging (MRI) of the brain and orbits, were used. Results Bilateral inferior visual field defects prompted initial neuroophthalmic evaluation. Funduscopy revealed bilateral SSONH, worse on the right. MRI of the brain and orbits revealed hypoplastic optic nerves and a small optic chiasm. Conclusions Although the association between SSONH and maternal diabetes mellitus is a well-documented entity, prior reports have been solely in the neuroophthalmic literature. The optic discs in patients with SSONH have a characteristic appearance, which may obviate the need for additional evaluation of the visual field defects. The MRI findings of hypoplastic optic nerves and a small optic chiasm have previously not been reported. This patient underscores the importance of recognizing the association between SSONH and maternal diabetes mellitus.
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