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TitleIschemic optic disc swelling? Show me your skin!
Abstract Nr.3030
PurposeSneddon syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of livedo reticularis (LR) with ischemic cerebrovascular disease. We report ischemic optic disc swelling as a novel feature of Sneddon syndrome.
MethodsSchool medical screening identified visual loss in one eye of a 9-year-old girl. She underwent a full work-up.
ResultsBCVA was hand movements in the right eye (RE), 20/20 in the left eye (LE). Timing of onset of visual loss was unknown. Fundoscopy revealed a pale slightly swollen disc in the RE. The LE had an unexpected temporal pallor. OCT confirmed nerve fibre layer loss. Goldman visual field of the RE was limited to an inferotemporal island and a central scotoma in the LE. The general workup aimed at detecting an underlying cause to protect the LE. Lab testing was negative for an infectious, inflammatory and auto-immune panel. MRI of the brain was considered to be normal, however 3 white lesions of ischemic nature were seen in the frontoparietal lobe. Only when florid marbled skin changes, livedo reticularis, were noticed on the arms, legs and trunk, a possible link with underlying trombotic vasculopathy was made. This together with the optic atrophy and the ischemic foci on MRI let to a diagnosis of Sneddon syndrome. General treatment was considered to avoid further cerebrovascular insults.
ConclusionAlthough rare, Sneddon syndrome should be included in the differential diagnosis of any pale optic disc swelling, especially in younger patients. A small step beyond the borders of the ophthalmologist’s comfort zone with a simple inspection of the skin may prove a huge change in a patient’s life.
Conflict of interestNo
Authors 1
Last nameVERMEIRSCH
InitialsS
DepartmentUniversity Hospital
CityGhent
Authors 2
Last nameDelbeke
InitialsP
DepartmentUniversity Hospital
CityGhent
Authors 3
Last nameLambrecht
InitialsP
DepartmentSaint John General Hospital
CityOstend
Authors 4
Last nameDe Zaeytijd
InitialsJ
DepartmentUniversity Hospital
CityGhent
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