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A 19-year-old male patient presented with blurring of vision in his left eye. Central retinal vein occlusion was detected on ophthalmic examination. Clinical examination and labora - tory analysis were performed for risk factors predisposing him to retinal vein occlusion. His plasma homocysteine concentration was 14.30 U/mL. No other abnormalities were found in other hema - tologic tests. C677T heterozygous mutation in the methylenetetrahydrofolate reductase (MTHFR) gene was detected by real-time polymerase chain reaction. A heterozygous mutation was detected in the same gene in the patient's mother, father and one of his sisters, also a homozygous mutation was detected in the other sister. Retinal vein occlusion in young patients may be related to mild hy - perhomocysteinemia and a C677T mutation in the MTHFR gene.

türkiye klinikleri tıp bilimleri dergisi

Central Retinal Vein Occlusion Associated with Hyperhomocysteinemia in a Patient with Heterozygous for the Methylenetetrahydrofolate Reductase C677T Mutation: Case Report