Septo-optic dysplasia: a rare case report
DOI:
https://doi.org/10.18203/2349-3291.ijcp20243097Keywords:
Septo-optic dysplasia, De morsier syndrome, Optic nerve hypoplasiaAbstract
Septo-optic dysplasia (SOD), earlier referred to as de Morsier syndrome, is an uncommon disorder of development wherein the septum pellucidum—a thin membrane located between the two cerebral hemispheres-as well as the eyes and pituitary gland, are affected. It is a spectrum of disorders that causes optic nerve defects and also affects the optic disc. It is also associated with midline brain anomalies and those of the pituitary gland. Thus, the disease may present as visual problems, reduced tone of the muscles, delays in development, and hormonal imbalances. Clinical examination identifies features related to these anomalies. The diagnosis is confirmed by neuroimaging, or a genetic study. Managing such a case requires a multi-disciplinary approach. Here we present an 8-year-old boy who was diagnosed with septo-optic dysplasia and was appropriately managed.
References
Great Ormond Street Hospital. Septo-optic dysplasia. GOSH hospital site. Available at: https://www.gosh.nhs.uk/conditions-and-treat. Accessed on 20th March 2024.
Ganau M, Huet S, Syrmos N, Meloni M, Jayamohan J. Neuro-ophthalmological manifestations of septo-optic dysplasia: Current Perspectives Eye And Brain. 2019;11:37-47.
Kliegman RM, St Geme JW III. Nelson Textbook of Pediatrics E-Book. Elsevier Health Sciences. 2019. Available at: https://shop.elsevier.com.
Septo-optic dysplasia spectrum. About the disease. GARD. 2020. Available at: https://rarediseases.info.nih.gov/diseases. Accessed on 17th March 2024.
Cappelli ODR, Tucker CT, Taylor VD. Ocular manifestations of septo-optic dysplasia. Optometric Clinical Practice. 2023;5(1):41.
Septo-optic dysplasia. National institute of neurological disorders and stroke. 2021. Available at: https://www.ninds.nih.gov/health-information. Accessed on 17th March 2023.
Philadelphia CHO. Septo-optic dysplasia. children’s hospital of philadelphia. Available at: https://www.chop.edu/conditions-diseases/septo. Accessed on 28th March 2024.
Al-Senawi R, Al-Jabri B, Al-Zuhaibi S, Al-Azri F, Al-Yarubi S, Harikrishna B, et al. Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children. Oman J Ophthalmol. 2013;6(3):193-8.