Anterior Uveitis in Patients With Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms: A Case Series
- 1Ophthalmology, Alexandria University, Alexandria, EGY
- 2Ophthalmology, Ain Shams University, Cairo, EGY
- 3Ophthalmology, Dr. Samir Eye Clinic, Alexandria, EGY
Abstract
Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms have not, to our knowledge, previously been reported in association with anterior uveitis.
We retrospectively reviewed the medical records of three consecutive female patients with anterior uveitis and documented MTHFR gene polymorphisms. All patients presented with unilateral nongranulomatous anterior uveitis, and an extensive laboratory evaluation excluded other recognized causes of uveitis. A 37-year-old woman with recurrent left anterior uveitis had a heterozygous C677T polymorphism. A 33-year-old woman presenting with her first episode of right anterior uveitis had a heterozygous A1298C polymorphism. A 50-year-old woman with recurrent anterior uveitis had compound heterozygous C677T and A1298C polymorphisms.
MTHFR gene polymorphisms may be a consideration in selected patients with recurrent unexplained anterior uveitis, particularly when conventional autoimmune testing, including HLA-B27, is negative. Further studies are required to clarify whether this observed association is causal, its clinical implications, and any potential relevance to management.
Related
- Role of Paternal Methylenetetrahydrofolate Reductase Polymorphisms on Recurrent Pregnancy Loss and In vitro Fertilisation Outcomes: A Systematic Review and Meta analysis.
- Cerebral venous thrombosis during pregnancy and the puerperium in the setting of hyperhomocysteinemia and methylenetetrahydrofolate reductase c.677 C > T polymorphism.
- P007 Delayed-Onset Acute Anterior Uveitis Associated with Long-Term Zoledronic Acid Therapy in Metastatic Prostate Cancer
- Association analysis of IL-6 polymorphisms and relevant biomarkers in patients with renal failure
- Intraocular pressure changes after posterior sub-Tenon injection of triamcinolone acetonide in a sample of Iraqi patients with noninfectious uveitis
BibTeX
@article{zakaria2026anterior,
title = {{Anterior Uveitis in Patients With Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms: A Case Series}},
author = {Nancy Zakaria and Caroline A Tawfik and Samir Shoughy},
journal = {Cureus},
year = {2026},
month = sep,
doi = {10.7759/cureus.117191},
url = {https://europepmc.org/article/PMC/PMC13720558},
note = {CC BY},
}
RIS
TY - JOUR
TI - Anterior Uveitis in Patients With Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms: A Case Series
AU - Nancy Zakaria
AU - Caroline A Tawfik
AU - Samir Shoughy
PY - 2026
DA - 2026/09/30
JO - Cureus
DO - 10.7759/cureus.117191
UR - https://europepmc.org/article/PMC/PMC13720558
AB - Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms have not, to our knowledge, previously been reported in association with anterior uveitis. We retrospectively reviewed the medical records of three consecutive female patients with anterior uveitis and documented MTHFR gene polymorphisms. All patients presented with unilateral nongranulomatous anterior uveitis, and an extensive laboratory evaluation excluded other recognized causes of uveitis. A 37-year-old woman with recurrent left anterior uveitis had a heterozygous C677T polymorphism. A 33-year-old woman presenting with her first episode of right anterior uveitis had a heterozygous A1298C polymorphism. A 50-year-old woman with recurrent anterior uveitis had compound heterozygous C677T and A1298C polymorphisms. MTHFR gene polymorphisms may be a consideration in selected patients with recurrent unexplained anterior uveitis, particularly when conventional autoimmune testing, including HLA-B27, is negative. Further studies are required to clarify whether this observed association is causal, its clinical implications, and any potential relevance to management.
SN - 2168-8184
ER -