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


CONCLUSIONS
Central retinal vein occlusion may be associated with a mutation in MTHFR.
Loewenstein
A
A
Department of Ophthalmology, Tel-Aviv Sourasky Medical Center.
Winder
A
A
Goldstein
M
M
Lazar
M
M
Eldor
A
A
D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D000328:Adult; D005492:Folic Acid / Q000627:therapeutic use; D005500:Follow-Up Studies; D006397:Hematinics / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009679:Nuclear Family; D010088:Oxidoreductases / Q000097:blood / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012170:Retinal Vein Occlusion / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics; D012307:Risk Factors; D014792:Visual Acuity
D006397:Hematinics; D005492:Folic Acid; D010088:Oxidoreductases; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D042965:Methylenetetrahydrofolate Reductase (NADPH2)