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Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives

Authors Ganau M, Huet S, Syrmos N, Meloni M, Jayamohan J

Received 21 June 2019

Accepted for publication 24 September 2019

Published 18 October 2019 Volume 2019:11 Pages 37—47


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Professor Margaret Wong-Riley

Mario Ganau,1 Sibel Huet,1 Nikolaos Syrmos,2 Marco Meloni,3 Jayaratnam Jayamohan1

1Department of Neurosurgery, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 2Department of Neurosurgery, School of Medicine, Aristotle University of Thessaloniki, Macedonia, Greece; 3Department of Medicine and Surgery, Bicocca University, Milan, Italy

Correspondence: Mario Ganau
Department of Neurosurgery, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Abstract: Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital disorder belonging to the group of mid-line brain malformations. Despite the highly variable phenotypic penetration, its classical triad include a) optic nerve hypoplasia (ONH), b) agenesis of septum pellucidum and corpus callosum, and c) hypoplasia of the hypothalamo-pituitary axis. SOD has stringent diagnostic criteria requiring 2 or more features of the classic triad, therefore it represents a separate entity from other conditions such as ONH and achiasmia syndromes which share only some of these aspects, or SOD plus syndrome which is characterized by additional cortical abnormalities. Starting from its etiology and epidemiology, this narrative review focuses on the management of SOD patients, including their diagnosis, treatment and follow-up. To date, SOD is not curable; nonetheless, many of its symptoms can be improved through a tailored approach, consisting of hormonal replacement, corrective ophthalmological surgery and neuropsychological support.

Keywords: septo-optic dysplasia, optic nerve hypoplasia, hypopituitarism, achiasmia, hydrocephalus, congenital visual loss

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