The role of hyperhomocyteinemia and methylenetetrahydrofolate reductae (MTHFR) C677T mutation in patient with retinal artery occluion

PURPOE: Hyperhomocyteinemia ha been etablihed a an important rik factor for cardiovacular dieae. The aim of the preent tudy wa to invetigate whether hyperhomocyteinemia and/or homozygoity for the methylenetetrahydrofolate reductae (MTHFR) C677T mutation are aociated with an increaed rik for retinal artery occluion (RAO). DEIGN: Retropective cae-control tudy. METHOD: We tudied 105 conecutive patient with retinal artery occluion and 105 age and ex-matched control ubject. Fating plama homocyteine level were determined by high-performance liquid chromatography, while genotype of the MTHFR C677T mutation were determined by polymerae chain reaction. REULT: Mean plama homocyteine level were ignificantly higher in patient with RAO compared with control ubject (12.2 ± 4.8 μmol/l v 10.3 ± 3.4 μmol/l; P = .003). Hyperhomocyteinemia wa defined by the 95th percentile of control plama homocyteine level a 15.8 μmol/l. Twenty (19.1%) patient with RAO exceeded thi level and were therefore claified a hyperhomocyteinemic compared with 5 (4.8%) control ubject (P = .003). The odd ratio for thee patient wa calculated at 4.7 (95% confidence interval [CI], 1.5–15.1). Mean plama folate level were ignificantly lower in patient than in the control group (5.6 ± 2.3 ng/ml v. 6.3 ± 2.5 ng/ml; P = .04). The prevalence of the homozygou genotype of methylenetetrahydrofolate reductae C677T mutation did not ignificantly differ between patient and control. CONCLUION: Our reult ugget that hyperhomocyteinemia, but not homozygoity, for the MTHFR C677T mutation i aociated with RAO.