Papillophlebitis in a young Girl Secondary to homozygous mutation of mthFR c677t and a1298c Genotypes

نویسندگان

  • Kiran Turaka
  • Matthew C. Ziemianski
  • J. Shepard
چکیده

C entral retinal vein occlusion (CRVO) in the young is also known as papillophlebitis and is a rare presentation.1 Retinal vein occlusion has been known to be associated with many systemic conditions.1,2 Association of hyperhomocysteinemia with retinal vein occlusion was reported in the literature.2-4 There was controversy, however, over whether there was correlation between methylenetetrahydrofolate reductase (MTHFR) gene mutations and hyperhomocysteinemia with the CRVO.5-8 We report a case of young female with unilateral papillophlebitis who was found to have positive homozygous mutations for MTHFR C677T and A1298C genes, which are suggestive of hyperhomocysteinemia.

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تاریخ انتشار 2013