Papillophlebitis with concurrent cilioretinal artery occlusion associated with MTHFR gene mutation: a case report

We aim to describe a patient with papillophlebitis and concurrent cilioretinal artery occlusion associated with heterozygous methylenetetrahydrofolate reductase (MTHFR) gene mutation. A 20-year-old man presented with a history of transient visual loss. On examination, visual acuity was 20/25 in the right eye and 20/20 in the left eye and a positive right relative afferent pupillary defect (RAPD). Fundus examination revealed optic disc swelling with peripapillary subretinal hemorrhage, and vascular tortuosity. Findings were most consistent with papillophlebitis and concurrent cilioretinal arterial occlusion. The patient was evaluated for systemic disorders, which identified a mildly elevated homocysteine level. Molecular testing revealed MTHFR C677T heterozygosity. The patient received a single intravitreal aflibercept injection. At the 8-week follow-up, visual acuity improved to 20/20 in the affected eye, with complete resolution of retinal hemorrhages and optic disc swelling and residual atrophy of the inner retinal layers. Heterozygous MTHFR gene mutations may represent an independent thrombosis risk factor; therefore, we advise ophthalmologists and clinicians to perform a thorough systemic work-up and targeted thrombophilia testing in otherwise healthy patients who present with signs of papillophlebitis.