Anterior Uveitis in Patients With Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms: A Case Series

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 37year-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.