Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation.

Abstract

To report on the occurrence of methylenetetrahydrofolate reductase (MTHFR) deficiency in patients with retinal vein occlusion (RVO). Prospective case series 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 were compared to the reported incidence of MTHFR deficiency in the Israeli population at large. Twenty-six patients (44.1%) were heterozygotes and 11 (18.6%) were homozygotes for 677C-T mutation in MTHFR. The MTHFR 677C-T homozygosity was documented as being present in 10.4% of healthy individuals in the Israeli population. The difference in homozygosity was found to be statistically significant (P = 0.038). Retinal vein occlusion may be associated with a mutation in MTHFR.