Bilateral retinal vein occlusion associated with 5,10-methylenetetrahydrofolate reductase mutation

Am J Ophthalmol. 1997 Dec;124(6):840-1. doi: 10.1016/s0002-9394(14)71703-9.


Purpose: To report on the occurrence of 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency, known to cause mild to moderate hyperhomocystinemia and increased risk of vascular occlusive disease, in a young patient with bilateral central retinal vein occlusion.

Methods: A 25-year-old man was initially examined with central retinal vein occlusion in the right eye, followed 4 months later by a central retinal vein occlusion in the left eye. Studies for risk factors predisposing to thrombosis were performed.

Results: Hematologic studies failed to detect any pathology. However, the patient was found to be homozygous for 677C-T mutation in MTHFR enzyme.

Conclusion: Central retinal vein occlusion may be associated with a mutation in MTHFR.

Publication types

  • Case Reports

MeSH terms

  • 5,10-Methylenetetrahydrofolate Reductase (FADH2)
  • Adult
  • Folic Acid / therapeutic use
  • Follow-Up Studies
  • Hematinics / therapeutic use*
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Nuclear Family
  • Oxidoreductases / blood
  • Oxidoreductases / deficiency
  • Oxidoreductases / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Retinal Vein Occlusion / drug therapy
  • Retinal Vein Occlusion / enzymology*
  • Retinal Vein Occlusion / genetics
  • Risk Factors
  • Visual Acuity


  • Hematinics
  • Folic Acid
  • Oxidoreductases
  • 5,10-Methylenetetrahydrofolate Reductase (FADH2)
  • Methylenetetrahydrofolate Reductase (NADPH2)