Visual dysfunction secondary to arterial occlusion in the setting of factor V Leiden mutation

Abstract

Abstract: : Purpose: The Leiden mutation of factor V gene and the subsequent resistance of factor V to inactivation by activated protein C are associated with a procoagulant state, especially in the venous bed. The association with arterial thrombo–embolic disease remains unclear. Methods: We report four patients with visual field defects secondary to arterial occlusions and in whom we found a factor V Leiden mutation. Results:Four previously healthy patients, three females and one male, aged 32 to 58 years, presented with various visual field defects: bilateral arciform scotomas due to multiple infarcts of the nerve fibre layer (one case), superior defect due to anterior ischemic optic neuropathy (one case), homonymous hemianopsia due to stroke (two cases). An abnormal resistance to activated protein C and a heterozygous state for factor V Leiden mutation was found in all four cases. The two patients who suffered from a stroke also showed elevated antiphospholipid antibodies (one case) and a patent foramen ovale (one case). Conclusions: Conflicting reports on the effective role of factor V Leiden mutation in arterial thrombo–embolic events are present in the literature. We report four cases of arterial occlusion in whom a thrombophilic predisposition was present with a heterozygous state of factor V Leiden mutation. In two cases, no other risk factor was found. We hypothesize that factor V Leiden mutation, even in a heterozygous state, might predispose to arterial occlusion in some patients.

Keywords: vascular occlusion/vascular occlusive disease • neuro–ophthalmology: diagnosis