Septo-Optic Dysplasia: A Case Series of 33 Patients.
Rohan NalawadeManjushree BhatePublished in: Neuro-ophthalmology (Aeolus Press) (2024)
The objective of this study was to record the clinical, neuro-radiological, and systemic features of patients with septo-optic dysplasia (SOD). A retrospective review of patients was conducted to identify patients with features consistent with SOD over a 6-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 identified. The male to female ratio was 2:1, while the median age at diagnosis was 5 years (interquartile range = 10 years, range = 0-44 years). Optic nerve hypoplasia (ONH) was bilateral in 81.81% 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. Therefore, additional neuro-imaging is important for a diagnosis in cases of unilateral and bilateral ONH and a multidisciplinary approach is beneficial.
Keyphrases
- end stage renal disease
- optic nerve
- magnetic resonance imaging
- newly diagnosed
- chronic kidney disease
- ejection fraction
- prognostic factors
- peritoneal dialysis
- optical coherence tomography
- case report
- metabolic syndrome
- magnetic resonance
- mass spectrometry
- high resolution
- deep learning
- quality improvement
- photodynamic therapy