Idiopathic central retinal vein occlusion in a thrombophilic patient with the heterozygous 20210 G/A prothrombin genotype

Am J Ophthalmol. 1999 Aug;128(2):247-8. doi: 10.1016/s0002-9394(99)00069-0.

Abstract

Purpose: To report the occurrence of monolateral central retinal vein occlusion in a patient with heterozygous 20210 G/A prothrombin genotype, known to be associated with high thrombophilic risk.

Methods: A monolateral central retinal vein occlusion was diagnosed in a 71-year-old woman, who had suffered from a deep vein thrombosis in her left leg at the age of 36 years. Mutations of the genes involved in the coagulation process were investigated by DNA polymerase chain reaction.

Result: DNA analysis showed the patient to be heterozygous for the prothrombin 20210 G/A genetic variation.

Conclusion: The 20210 G/A prothrombin gene mutation may be associated with central retinal vein occlusion.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • DNA / analysis
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Heterozygote
  • Humans
  • Point Mutation*
  • Polymerase Chain Reaction
  • Prothrombin / genetics*
  • Prothrombin / metabolism
  • Retinal Vein Occlusion / diagnosis
  • Retinal Vein Occlusion / etiology*
  • Retinal Vein Occlusion / genetics
  • Risk Factors
  • Thrombophilia / blood
  • Thrombophilia / complications*

Substances

  • Prothrombin
  • DNA