MTHFR C677T mutation, factor II G20210A mutation and factor V Leiden as risks factor for youth retinal vein occlusion.
OBJECTIVE
To determine whether methylene tetrahydrofolate reductase (MTHFR) C677T mutation, factor II G20210A mutation and factor V Leiden are risk factors for retinal vein occlusion (RVO) in patients under fifty years of age.


METHODS
Comparison of 29 patients, under 50 years old of age, as affected RVO and 62 age matched normal controls. Plasma MTHFR C677T genotype, Factor II G20210A genotype, Factor V Leiden genotype, S protein level, C protein level, APCR presence (Actived Protein C Resistance), homocysteine level and Beta-thromboglobulin level were determined.


RESULTS
Seventeen RVO patients and twenty-one controls were heterozygous for the MTHFR C677T mutation. Three RVO patients and twenty-three controls were homozygous for the MTHFR C677T mutation. Three RVO patients and two controls were heterozygous for the factor II G20210A mutation. One control was heterozygous for the factor V Leiden.


CONCLUSIONS
This study fails to demonstrate that these mutations are risk factors for RVO in patients under fifty years of age.
Istituto di Scienze Oftalmolgiche, University of Rome La Sapienza, Rome, Italy. Filippo.Cruciani@tin.it
F
F
Cruciani
A
A
Moramarco
T
T
Curto
A
A
Labate
V
V
Recupero
L
L
Conti
G M
GM
Gandolfo
C
C
Balacco Gabrieli
D020016:Activated Protein C Resistance; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000483:Alleles; D000704:Analysis of Variance; D003627:Data Interpretation, Statistical; D005165:Factor V / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006710:Homocysteine / Q000097:blood; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D012170:Retinal Vein Occlusion / Q000209:etiology / Q000235:genetics*; D012307:Risk Factors; D012737:Sex Factors
C095381:factor V Leiden; D006710:Homocysteine; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)