objective the diagnosis of de morsier syndrome or septo-optic dysplasia is made on the basis of the diagnosis of optic nerve hypoplasia. septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain structures including optic nerve hypoplasia and hypothalamic-pituitary dysfunction often associated with a wide variety of brain malformations of cortical development. th...

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Nowak M, K, Nieć Pojda-Wilczek D. The role of visual evoked potentials in ophthalmological evaluation a patient with optic nerve hypoplasia septo-optic dysplasia. Klinika Oczna / Acta Ophthalmologica Polonica. 2023. doi:10.5114/ko.2023.124701. APA Nowak, M., K., Nieć, & Pojda-Wilczek, (2023). https://doi.org/10.51...

how to cite this article: fadakar k, dadkhahfar s, esmaeili a, keyhanidoust z. a case of schizencephaly and septo-optic dysplasia presenting with anterior encephalocele. iran j child neurol autumn 2012; 6(4):47-50.   abstract schizencephaly is a rare central nervous system disorder with variable presentations. here we report a patient with a huge bilateral schizencephaly and septo-optic dysplas...

This case depicts an unusual presentation of septo-optic dysplasia. A four-year-old female presented with monocular nystagmus and temporal optic disc pallor in her left eye. Despite a normal sized optic nerve head, magnetic resonance imaging (MRI) showed a hypoplastic intraorbital and intracranial left optic nerve in the absence of a septum pellucidum. She was subsequently diagnosed with septo-...

Schizencephaly is a malformation of cortical development characterized by gray matter-lined clefts in the cerebral cortex and a range of neurological presentations. In some cases, there are features of septo-optic dysplasia concurrently with schizencephaly. The etiologies of both schizencephaly and septo-optic dysplasia are thought to be heterogeneous, but there is evidence that at least some c...

Fibrous dysplasia (FD) commonly affects the craniofacial structures including orbit. Rarely, growth involving orbital apex can cause intra-orbital or intracanalicular optic nerve compression leading to permanent vision loss.

The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency variable degree. All were identified to carry a gain−of−function mutation in BRAF.

OBJECTIVES To describe new ocular findings associated with oculodentodigital dysplasia (ODDD) and a novel mutation in the connexin 43 transmembrane domain. DESIGN Oculodentodigital dysplasia is a rare autosomal dominant disease characterized by multiple systemic abnormalities, most commonly of the ocular, nasal, dental, and limb structures. Herein, we studied 2 patients with ODDD. We describe...