| Sumario: | Background: Septo-optic dysplasia is a congenital condition involving optic nerve hypoplasia, an absent septum pellucidum, and thinning of the corpus callosum. Endocrine dysfunctions may also be present. While only 30% of patients have a triad of optic nerve hypoplasia, absence of the septum pellucidum, and pituitary dysfunctions, early diagnosis of this disorder is important. Case Report: A six-year-old male presented with a history of failing a school vision screening. The entering acuities, and subsequently the best-corrected visual acuities, were 20/500 OD, 20/20 OS. An afferent pupillary defect was present OD. Cup-to-disc ratios were 0.45H/0.50V OD, 0.30H/0.35V OS. Optical coherence tomography confirmed OD to be smaller in size than OS. Magnetic Resonance Imaging (MRI) revealed a hypoplastic optic nerve OD and partial absence of the septum pellucidum, consistent with the diagnosis of septo-optic dysplasia. Conclusion: This case outlines the presentation of the patient, diagnostic testing, appropriate referrals, and management available for patients with septo-optic dysplasia.
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