title: Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation.
abstract: OBJECTIVE
  To report on the occurrence of methylenetetrahydrofolate reductase (MTHFR) deficiency in patients with retinal vein occlusion (RVO).
  
  
  METHODS
  Prospective case series
  
  
  METHODS
  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.
authors.affiliation: Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Israel. stevelow@actcom.il
authors.forename: A
authors.initials: A
authors.lastname: Loewenstein
authors.forename: M
authors.initials: M
authors.lastname: Goldstein
authors.forename: A
authors.initials: A
authors.lastname: Winder
authors.forename: M
authors.initials: M
authors.lastname: Lazar
authors.forename: A
authors.initials: A
authors.lastname: Eldor
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation; D011446:Prospective Studies; D012170:Retinal Vein Occlusion / Q000201:enzymology / Q000235:genetics*; D012307:Risk Factors
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)