Septo-optic dysplasia (de Morsier syndrome).
A 12-year-old boy presented with poor vision and nystagmus. Fundus examination revealed bilateral optic nerve hypoplasia. An MRI of the brain demonstrated the absence of the septum pellucidum, which confirmed a diagnosis of septo-optic dysplasia or de Morsier syndrome.
Leloup
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E
Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium. eva.leloup@telenet.be
Delbeke
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P
D002648:Child; D006801:Humans; D008297:Male; D020417:Nystagmus, Congenital; D009898:Optic Disk / Q000002:abnormalities*; D012688:Septum Pellucidum / Q000002:abnormalities*; D013577:Syndrome