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Am J Ophthalmol. 2002 Jul;134(1):57-61.

The role of hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with retinal artery occlusion.

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  • 1Department of Ophthalmology, Karl-Franzens University, Graz, Austria. martin.weger@kfunigraz.ac.at

Abstract

PURPOSE:

Hyperhomocysteinemia has been established as an important risk factor for cardiovascular diseases. The aim of the present study was to investigate whether hyperhomocysteinemia and/or homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation are associated with an increased risk for retinal artery occlusion (RAO).

DESIGN:

Retrospective case-control study.

METHODS:

We studied 105 consecutive patients with retinal artery occlusion and 105 age and sex-matched control subjects. Fasting plasma homocysteine levels were determined by high-performance liquid chromatography, while genotypes of the MTHFR C677T mutation were determined by polymerase chain reaction.

RESULTS:

Mean plasma homocysteine levels were significantly higher in patients with RAO compared with control subjects (12.2 +/- 4.8 micromol/l vs 10.3 +/- 3.4 micromol/l; P =.003). Hyperhomocysteinemia was defined by the 95th percentile of control plasma homocysteine levels as 15.8 micromol/l. Twenty (19.1%) patients with RAO exceeded this level and were therefore classified as hyperhomocysteinemic compared with 5 (4.8%) control subjects (P =.003). The odds ratio for these patients was calculated at 4.7 (95% confidence interval [CI], 1.5-15.1). Mean plasma folate levels were significantly lower in patients than in the control group (5.6 +/- 2.3 ng/ml vs. 6.3 +/- 2.5 ng/ml; P =.04). The prevalence of the homozygous genotype of methylenetetrahydrofolate reductase C677T mutation did not significantly differ between patients and controls.

CONCLUSIONS:

Our results suggest that hyperhomocysteinemia, but not homozygosity, for the MTHFR C677T mutation is associated with RAO.

PMID:
12095808
[PubMed - indexed for MEDLINE]
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