101. Papillophlebitis Associated With Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T)
- Author
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Efthalia Ntora, Chryssa Terzidou, and Georgios Dalianis
- Subjects
medicine.medical_specialty ,Ophthalmic examination ,genetic structures ,030204 cardiovascular system & hematology ,methylenetetrahydrofolate reductase mutation ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Factor V Leiden ,papillophlebitis ,chemistry.chemical_classification ,Hematology ,biology ,business.industry ,General Engineering ,ORBITAL PAIN ,medicine.disease ,Normal limit ,eye diseases ,Papillophlebitis ,Ophthalmology ,Enzyme ,chemistry ,Methylenetetrahydrofolate reductase ,factor v leiden ,biology.protein ,retinal venous disease ,business ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2021