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

Authors

Justina Kasteri, Lake Erie College of Osteopathic MedicineFollow
Timothy Ehmann, Rochester Regional HealthFollow
Bryan Scott, Rochester Regional Health SystemFollow

Author Credentials

Justina Kasteri - Medical student

Timothy Ehmann - DO, currently PGY3 resident

Bryan Scott - MD, radiology attending at RRH

Author ORCID Identifier

Timothy Ehmann: https://orcid.org/0009-0004-1936-6309

Abstract

Stroke is one of the leading causes of death and acquired long-term disability in the world.¹ In United States stroke is the 5^th 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.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License

Recommended Citation

Kasteri J, Ehmann T, Scott B. CNS and retinal radiologic findings of a young patient with heterozygous prothrombin G20210A gene mutation. Advances in Clinical Medical Research and Healthcare Delivery. 2025; 5(3):6-11. doi: 10.53785/2769-2779.1274.