Optic disc elevation in Down syndrome

Optic disc elevation associated with Down syndrome is an uncommon phenomenon and raises the suspicion of an intracranial space-occupying lesion, thus necessitating the consideration of invasive and noninvasive investigations.

Four patients with Down syndrome and optic disc elevation without an underlying intracranial pathology are reported. Thorough ophthalmological and neuroradiological investigations were performed on each patient. Mild hyperopia occurred in three patients and myopia in one.

We believe that in most Down syndrome patients with disc elevation, fluorescein angiography and/or clinical follow-up may be sufficient.