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...

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Detalles Bibliográficos
Autores principales: Ntora, Efthalia, Dalianis, Georgios, Terzidou, Chryssa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Ophthalmology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8212846/
https://www.ncbi.nlm.nih.gov/pubmed/34159001
http://dx.doi.org/10.7759/cureus.15081
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author Ntora, Efthalia
Dalianis, Georgios
Terzidou, Chryssa
author_facet Ntora, Efthalia
Dalianis, Georgios
Terzidou, Chryssa
author_sort Ntora, Efthalia
collection PubMed
description 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.
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spelling pubmed-82128462021-06-21 Papillophlebitis Associated With Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T) Ntora, Efthalia Dalianis, Georgios Terzidou, Chryssa Cureus Ophthalmology 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. Cureus 2021-05-17 /pmc/articles/PMC8212846/ /pubmed/34159001 http://dx.doi.org/10.7759/cureus.15081 Text en Copyright © 2021, Ntora et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Ophthalmology
Ntora, Efthalia
Dalianis, Georgios
Terzidou, Chryssa
Papillophlebitis Associated With Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T)
title Papillophlebitis Associated With Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T)
title_full Papillophlebitis Associated With Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T)
title_fullStr Papillophlebitis Associated With Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T)
title_full_unstemmed Papillophlebitis Associated With Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T)
title_short Papillophlebitis Associated With Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T)
title_sort papillophlebitis associated with coexisting heterozygous mutations of factor v leiden and methylenetetrahydrofolate reductase enzyme-(c677t)
topic Ophthalmology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8212846/
https://www.ncbi.nlm.nih.gov/pubmed/34159001
http://dx.doi.org/10.7759/cureus.15081
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AT terzidouchryssa papillophlebitisassociatedwithcoexistingheterozygousmutationsoffactorvleidenandmethylenetetrahydrofolatereductaseenzymec677t

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