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Central Retinal Vein Occlusion Associated with Hyperhomocysteinemia in a Patient with Heterozygous for the Methylenetetrahydrofolate Reductase C677T Mutation: Case Report
(Ortadogu Ad Pres & Publ Co, 2012) Sakalar, Y. Bayezit; Keklikci, Ugur; Unlu, Kaan; Caca, Ihsan; Alakus, Mehmet Fuat
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 laboratory 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 hematologic 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 hyperhomocysteinemia and a C677T mutation in the MTHFR gene.