Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation.
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.
Loewenstein
A
A
Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Israel. stevelow@actcom.il
Goldstein
M
M
Winder
A
A
Lazar
M
M
Eldor
A
A
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
D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)