Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations

Am J Ophthalmol. 1997 Nov;124(5):689-91. doi: 10.1016/s0002-9394(14)70910-9.

Abstract

Purpose: To analyze the potential cause of retinal arterial occlusion in a 9-year-old child.

Methods: Case report. Antithrombin III, protein C, free protein S, activated protein C resistance, and antiphospholipid antibodies in plasma were determined. Determination of factor V R506Q (Leiden mutation), thermolabile methylene tetrahydrofolate reductase by polymerase chain reaction, and restriction enzyme analysis were performed.

Results: The patient was found to be heterozygous for factor V R506Q (Leiden mutation) and homozygous for thermolabile methylene tetrahydrofolate reductase.

Conclusion: Coexistence of two mild hereditary thrombophilic states may result in severe thrombotic manifestations in young people.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Enzyme Activation
  • Factor V / genetics*
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Heterozygote
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Protein C / metabolism
  • Retinal Artery Occlusion / enzymology
  • Retinal Artery Occlusion / genetics*
  • Retinal Artery Occlusion / pathology
  • Vision Disorders / enzymology
  • Vision Disorders / genetics
  • Vision Disorders / pathology

Substances

  • Protein C
  • factor V Leiden
  • Factor V
  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)