Papillophlebitis Associated with Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T).

We present a rare case of a 22-year-old female patient with floaters in her left eye and atypical orbital pain. Ophthalmic examination revealed optic disc edema with uncomplicated venous congestion (papillophlebitis). Her uncorrected visual acuity was 20/20 in both eyes and visual fields were within normal limits. Biochemical and autoimmune markers were normal, except for Factor V Leiden and methylenetetrahydrofolate reductase enzyme (MTHFR-C677T) heterozygous mutations. Ophthalmoscopic findings resolved completely after one-month treatment with oral methylprednisolone. Genetic analysis has become an integral part of papillophlebitis diagnosis and hematology consultation is essential to prevent future complications.