Recurrent central retinal vein occlusion in a young thrombophilic patient with factor V Leiden mutation

C. Incorvaia, F. Bandello, F. Parmeggiani, S. D'Angelo, C. Costagliola, A. Sebastiani

Research output: Contribution to journalArticlepeer-review

Abstract

PURPOSE. To investigate the cause of recurrent central retinal vein occlusion in a 26-year-old white woman. METHODS. Case report. Complete blood analyses were done, including HLA tissue typing, immunoserologic and coagulation tests, with cardiovascular and capillaroscopy investigations. Factor V:R506Q and prothrombin 20210 G/A mutations were checked by polymerase chain reaction and restriction enzyme analysis. RESULTS. DNA analysis showed the patient to be heterozygous for factor V:R506Q mutation. During a follow-up of 18-months, after starting anticoagulant therapy, the patient had not suffered from any other ocular or systemic occlusive vascular accident. CONCLUSIONS. The R506Q factor V gene mutation may be associated with recurrent central retinal vein occlusions. Genetic investigation should be promptly recommended in thrombotic patients to establish a specific preventive treatment.

Original languageEnglish
Pages (from-to)131-134
Number of pages4
JournalEuropean Journal of Ophthalmology
Volume12
Issue number2
Publication statusPublished - 2002

Keywords

  • Factor V Leiden
  • Hereditary thrombophilia
  • Recurrent central retinal vein occlusion

ASJC Scopus subject areas

  • Ophthalmology

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