Retinal vein occlusion associated with methylenetetrahydrofolate reductasemutation

Objective: To report on the occurrence of methylenetetrahydrofolate reducta se (MTHFR) deficiency in patients with retinal vein occlusion (RVO). Design: Prospective case series Participants: Fifty-nine consecutive patients with newly diagnosed RVO seen at the Retina Unit in the Tel Aviv Medical Center during 1997. Methods/Testing: Interviews and multiple blood analyses were done. Data wer e compared to the reported incidence of MTHFR deficiency in the Israeli pop ulation at large. Results: Twenty-six patients (44.1%) were heterozygotes and 11 (18.6%) were homozygotes for 677C-T mutation in MTHFR. The MTHFR 677C-T homozygosity wa s documented as being present in 10.4% of healthy individuals in the Israel i population. The difference in homozygosity was found to be statistically significant (P = 0.038). Conclusions: Retinal vein occlusion may be associated with a mutation in MT HFR.