Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.05.010
Abstract: Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of… read more here.
Keywords: optic dysplasia; age; prevalence; epidemiology ... See more keywords
Neuroimaging of septo-optic dysplasia-plus with midbrain hypoplasia and ophthalmoplegia
Sign Up to like & getrecommendations! Published in 2020 at "eNeurologicalSci"
DOI: 10.1016/j.ensci.2020.100235
Abstract: Septo-optic dysplasia is a rare brain malformation that can be associated with anomalous cortical development, such as schizencephaly, which is referred to as septo-optic dysplasia plus. This report describes septo-optic dysplasia-plus associated with unilateral atrophy… read more here.
Keywords: optic dysplasia; midbrain; neuroimaging septo; dysplasia plus ... See more keywords
Bilateral Microphthalmia with Septo-Optic Dysplasia
Sign Up to like & getrecommendations! Published in 2021 at "Neuro-Ophthalmology"
DOI: 10.1080/01658107.2020.1791910
Abstract: ABSTRACT A 3-month-old boy was referred for assessment and management of apparently absent ocular globes. Ocular examination showed small orbits with apparently absent globes, small conjunctival cul-de-sac, shallow fornices, microblepharon and sunken eyelids. Magnetic resonance… read more here.
Keywords: optic dysplasia; septo optic; bilateral microphthalmia; microphthalmia ... See more keywords
Selected Ophthalmological Features in Children with Septo-Optic Dysplasia and Optic Nerve Hypoplasia
Sign Up to like & getrecommendations! Published in 2022 at "Neuro-Ophthalmology"
DOI: 10.1080/01658107.2022.2077967
Abstract: ABSTRACT Septo-optic dysplasia (SOD) and optic nerve hypoplasia (ONH) cause congenital visual impairment. Their aetiology is mostly unknown. Our aim was to investigate the prevalence of selected ophthalmological features in patients with these disorders. A… read more here.
Keywords: ophthalmological features; optic nerve; optic dysplasia; selected ophthalmological ... See more keywords
Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2039720
Abstract: ABSTRACT Background Septo-optic dysplasia (SOD) is a condition that affects the early development of the brain and eyes. It presents with a combination of optic nerve hypoplasia, brain midline structure abnormalities, and pituitary gland hypoplasia.… read more here.
Keywords: disc edema; hypoplasia; fovea hypoplasia; optic dysplasia ... See more keywords
Patients with septo-optic dysplasia: General ophthalmologic assessment and retinal imaging.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of ophthalmology"
DOI: 10.1177/11206721221128865
Abstract: BACKGROUND To evaluate the functional development and, retinal and optic disc morphology using OCT in patients with septo-optic dysplasia (SOD). METHODS This retrospective case series included patients diagnosed with SOD between 2007 and 2020. Ophthalmologic… read more here.
Keywords: retinal imaging; imaging; optic dysplasia; patients septo ... See more keywords
Septo-optic dysplasia with amniotic band syndrome sequence: a case report
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Case Reports"
DOI: 10.1186/s13256-019-2306-2
Abstract: De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities, including absence of septum… read more here.
Keywords: optic dysplasia; case; amniotic band; septo optic ... See more keywords
Management of transient central diabetes insipidus with intravenous desmopressin in a premature infant with gastroschisis and septo-optic dysplasia: A case report.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of neonatal-perinatal medicine"
DOI: 10.3233/npm-200465
Abstract: Central diabetes insipidus (CDI) may occur in the setting of intracranial abnormalities that affect the hypothalamus-pituitary system. It occurs rarely in neonates, especially in the premature population, and represents a challenging disease process to treat… read more here.
Keywords: central diabetes; intravenous desmopressin; septo optic; gastroschisis septo ... See more keywords
Novel Genetic Diagnoses in Septo-Optic Dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13071165
Abstract: Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of… read more here.
Keywords: novel genetic; optic dysplasia; septo optic; genetic diagnoses ... See more keywords
Septo-optic dysplasia/de Morsier's syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Saudi Journal of Anaesthesia"
DOI: 10.4103/1658-354x.197350
Abstract: Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities. Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, adrenal crisis, seizures, and sudden death.… read more here.
Keywords: morsier syndrome; sod; optic dysplasia; dysplasia morsier ... See more keywords