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

Abstract

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. 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. Hematologic studies failed to detect any pathology. However, the patient was found to be homozygous for 677C-T mutation in MTHFR enzyme. Central retinal vein occlusion may be associated with a mutation in MTHFR.