Septo-optic dysplasia (SOD) is a congenital disorder belonging to the midline brain malformation group. The condition manifests as a classical triad, including optic nerve hypoplasia (ONH), agenesis of midline structures (absent septum pel-lucidum and agenesis of the corpus callosum), and hypoplasia of the hypothalamo-pituitary axis. This retrospective case note review aimed to record the clinical, neuro-radiological, and systemic features of patients with SOD. Its objective was to identify patients with features consistent with SOD over a six-year period, including optic nerve hypoplasia with agenesis of midline structures, along with an absent septum pellucidum and / or agenesis of the corpus callosum. Thirty-three patients were included. Optic nerve hypoplasia (ONH) was bilateral in 81.82% of cases (n=27) and unilateral in 18.18% of cases (n=6), with three cases in each eye. Developmental delay was documented in 24.2% (n=8). The most frequent magnetic resonance imaging features that were consistent with SOD included: isolated absent septum pellucidum reported in 51.51% (n=17); isolated corpus callosum agenesis in 33.33% (n=11); and both absent septum pellucidum and corpus callosum agenesis in 15.15% (n=5). Pituitary gland abnormalities, including pituitary hypoplasia in 9% (n=3) or hypoplasia of pituitary infundibulum in 6% (n=2) were less common. Pituitary hormonal abnormalities were present in 50% of the 10 tested patients (n=5). Although bilateral ONH is more frequent, hypoplasia of just one optic nerve could be a presenting feature of SOD. The authors recommend neuro-imaging and further endocrine work-up in those diagnosed with unilateral and bilateral ONH. A multidisciplinary approach involving the paediatrician, paediatric neurologist, endocrinologist, and genetic teams along with vision rehabilitation team is suggested as beneficial for optimal outcomes.
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- Septo-optic dysplasia – a case note review
