Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation

Ophthalmology. 1999 Sep;106(9):1817-20. doi: 10.1016/S0161-6420(99)90357-3.

Abstract

Objective: To report on the occurrence of methylenetetrahydrofolate reductase (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 were compared to the reported incidence of MTHFR deficiency in the Israeli population 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 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).

Conclusions: Retinal vein occlusion may be associated with a mutation in MTHFR.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Middle Aged
  • Oxidoreductases Acting on CH-NH Group Donors / deficiency
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Point Mutation*
  • Prospective Studies
  • Retinal Vein Occlusion / enzymology
  • Retinal Vein Occlusion / genetics*
  • Risk Factors

Substances

  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)