Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives.
achiasmia
congenital visual loss
hydrocephalus
hypopituitarism
optic nerve hypoplasia
septo-optic dysplasia
Journal
Eye and brain
ISSN: 1179-2744
Titre abrégé: Eye Brain
Pays: New Zealand
ID NLM: 101587774
Informations de publication
Date de publication:
2019
2019
Historique:
received:
21
06
2019
accepted:
24
09
2019
entrez:
8
11
2019
pubmed:
7
11
2019
medline:
7
11
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31695544
doi: 10.2147/EB.S186307
pii: 186307
pmc: PMC6805786
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
37-47Informations de copyright
© 2019 Ganau et al.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest in this work.
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