CNS and retinal radiologic findings of a young patient with heterozygous prothrombin G20210A gene mutation

Stroke is one of the leading causes of death and acquired long-term disability in the world.1 In United States stroke is the 5th leading cause of death with a mortality rate of 49.1 deaths per 100,000 people.2 Strokes can be ischemic or hemorrhagic in origin, of which 85% are ischemic strokes. Approximately 10--15% of ischemic strokes occur in patients 18-50 years of age, and inherited thrombophilia may be a contributing factor through induction of a hypercoagulable state. Prothrombin G20210A mutation has an overall prevalence of approximately 2% of the general population, with an association between young patients having prothrombin G20210A mutation and cerebral ischemic strokes as well as ocular vascular occlusive events.3 Here, we present a case of a patient with heterozygote prothrombin G20210A mutation and associated cerebral and ocular imaging findings.