Prothrombin G20210A Mutation and Hyperhomocysteinemia in Young Patient with Non-Arteritic Ischemic Optic Neuropathy
A patient devoid of significant medical history presented with a sudden onset of painless vision loss in his right eye upon awakening. While the anterior segment appeared unremarkable, the right eye exhibited a Relative Afferent Pupillary Defect (RAPD), and fundus examination revealed grade 2-3 disc edema with the obscuration of minor blood vessels. Visual field testing uncovered an inferior altitudinal defect. Both MRI and MRA yielded unremarkable results. The patient was subsequently diagnosed with Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION), and underwent a hypercoagulable panel assessment which disclosed positivity for the prothrombin 20210A mutation and elevated homocysteine levels. This led to a referral to the hematology/oncology service, where anticoagulation therapy commenced. The occurrence of NAION in patients lacking conventional risk factors such as advanced age, diabetes, hypertension, or tobacco use warrants evaluation for a hypercoagulable state. Furthermore, consideration of this evaluation extends to young patients experiencing bilateral or recurrent NAION episodes.
Presentation Date: 12/21/2023
Issue Date: 01/05/2024
Please log in or click on ENROLL ME to access this course.
