A Case of DeMorsier Syndrome Misdiagnosed as Amblyopia

ABSTRACT

PURPOSE: We report a 32-year-old man with DeMorsier syndrome, who was referred for seizures, esotropia and visual disturbance of left eye. METHODS: Fundus examination, visual field examination and the visual evoked potential were performed, and other diagnostic studies included endocrine determinations, the electroencephalogram and MR imaging. RESULTS: Ophthalmic examination revealed left optic nerve hypoplasia with the "double ring" sign. Axial MR T1 weighted image showed tiny left optic nerve and absence of the septum pellucidum. Subsequent evaluation revealed temporal visual field defect, abnormal VEP and deuteranomaly of left eye.