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مقاله Abstract


Title: METHYLENETETRAHYDROFOLATE REDUCTASE GENE POLYMORPHISM IN PATIENTS WITH RETINAL VEIN OCCLUSION AND ANTERIOR ISCHEMIC OPTIC NEUROPATHY
Author(s): Nasser Shoeibi, Ali Saadat Targhi, Majid Abrishami, SeyyedehMaryam Hosseini, Touka Banaee, Mirnaghi Moosavi
Presentation Type: Oral
Subject: Retina and Retinal Cell Biology
Others:
Presenting Author:
Name: Nasser Shoeibi
Affiliation :(optional) Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
E mail: nshoeibi@gmail.com
Phone: 05117636933
Mobile: 09155137345
Purpose:

To evaluate the role of homozygosity/heterozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genotype in the risk of retinal vein occlusion (RVO) and anterior ischemic optic neuropathy.

Methods:

In a prospective study on patients younger than 50 years old with central retinal vein occlusion (CRVO), branch retinal vein occlusion (BRVO) or anterior ischemic optic neuropathy (AION) and otherwise healthy, MTHFR gene mutation was evaluated.

Results:

27 patients were enrolled in the study (16 males). 19 patients had CRVO, 6 patients had BRVO and 2 patients had AION. 17(63%) patients had polymorphism in one of common variant of MTHFR gene. 7 patients were heterozygote for A1298C and other were heterozygote or homozygote for C677T that common variant of MTHFR gene. 5 patients were heterozygote of two variant. 15% were homozygote. Only 48% of patients had a homocysteine level more than 11umol/L

Conclusion:

In otherwise healthy young patients with RVO or AION, MTHFR gene mutation can be considered a predisposing factor for vascular occlusion even in the era of normal homocysteine level in plasma.

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