ReviewEye and brain2019
Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives.
Review in Eye and brain, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review.Molecular autism · 2023Pooled it
- Neurologic Evaluation of Premature Infants at Term Equivalent Age: Too Early or Too Late? A Scoping Review.Medicina (Kaunas, Lithuania) · 2026Article
- Mitochondrial Dysfunction in Traumatic Brain Injury and Its Theranostic Implications.Biomolecules · 2026Review
- Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo-Optic Dysplasia in a Small-for-Gestational-Age Infant-A Case Report.Clinical case reports · 2026Article
- Article
- Biological pathways leading to septo-optic dysplasia: a review.Orphanet journal of rare diseases · 2025Review
- Sleep profile in patients with septo-optic-pituitary dysplasia: protocol for a prospective cohort study.BMJ open · 2025Article
- NovelInternational journal of ophthalmology · 2025Article
- Article
- A case of septo-optic dysplasia-plus presenting as episodic memory loss.Acta neurologica Belgica · 2024Article
- Septo-Optic Dysplasia: A Case Series of 33 Patients.Neuro-ophthalmology (Aeolus Press) · 2024Article
- Septo-optic dysplasia in an infant.Radiology case reports · 2022Article
- Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.Journal of human genetics · 2022Article
- Selected Ophthalmological Features in Children with Septo-Optic Dysplasia and Optic Nerve Hypoplasia.Neuro-ophthalmology (Aeolus Press) · 2022Article
- Genetic heterogeneity in corpus callosum agenesis.Frontiers in genetics · 2022Review
- Article
- Repeatability and Validity of MNREAD Test in Children With Vision Impairment.Translational vision science & technology · 2020Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.