Ophthalmic Vein Thrombosis Associated with Factor V Leiden and MTHFR Mutations

Superior ophthalmic vein thrombosis (SOVT) is a rare clinical entity that may be associated with hypercoagulability status. We present a case of a 77-year-old woman who presented to the emergency department complaining of eye ptosis, chemosis and conjunctival congestion in the right eye (RE). The ophthalmological examination revealed best-corrected visual acuity (BCVA) was 0.5 for the right eye (RE) 0.5 and 0.06 for the left eye (LE). Intraocular pressure (IOP) was 25 mmHg in RE and 14 mmHg in LE. Non-contrast computed tomography (CT) of the brain and orbits revealed a hyperreflectivity at the level of the right ophthalmic vein and inferior rectus muscle hypertrophy. An extensive hypercoagulable panel was completed and we found a positive result for Factor V Leiden (heterozygous mutation) and methyl-enetetrahydrofolate reductase (MTHFR-C677T homozygous mutations). Systemic steroidal anti-inflammatory and anticoagulant treatments were started immediately. Gradual resolution of symptoms was noted during the hospitalization, and BCVA in her RE was established at 0.7 at the 10-week follow-up.

Automated summary

This article presents a rare case of Superior Ophthalmic Vein Thrombosis (SOVT) that may be associated with hypercoagulable status. A 77-year-old female patient presented with eye ptosis, chemosis, and conjunctival congestion in the right eye (RE) and was found to have hypertrophy of the right ophthalmic vein and inferior rectus muscle. Further investigations revealed positive results for Factor V Leiden (heterozygous mutation) and methyl-enetetrahydrofolate reductase (MTHFR-C677T homozygous mutations). Immediate systemic treatment with steroids and anticoagulants led to gradual resolution of symptoms and improved visual acuity at follow-up.