Superior segmental optic nerve hypoplasia and diabetes mellitus

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. (c) 2005 Elsevier Inc. All rights reserved.