Retinal vein occlusion in child with rare mutations in genes for thrombophilia

doi: 10.7417/CT.2019.2126

  • C. Giancotta Department of Pediatrics, “Pugliese-Ciaccio” Hospital, Catanzaro
  • M. Sanseviero Department of Pediatrics, “Pugliese-Ciaccio” Hospital, Catanzaro
  • V. Talarico Department of Pediatrics, “Pugliese-Ciaccio” Hospital, Catanzaro
  • M.A. La Rosa Unit of Genetic and Pediatric Immunology, University-Hospital “G. Martino”, Messina
  • M.C. Galati Department of Pediatric Onco-hematology, “Pugliese-Ciaccio” Hospital, Catanzaro, Italy
  • G. Raiola Department of Pediatrics, “Pugliese-Ciaccio” Hospital, Catanzaro
  • R. Miniero Department of Pediatrics, “Pugliese-Ciaccio” Hospital, Catanzaro

Abstract

Introduction
Retinal vein occlusions (RVOs) are rare in the younger population. Hematological pro-thrombotic factors are thought to be important in a minority, amplifying an atherosclerotic anatomical predisposition.


Case report
Anotherwise healthy 13-year-old girl presented two episodes of sudden decreased vision in few months.Ophthalmological exams pointed out post-thrombotic intra-retinal hemorrhage. All investigations were normal, thrombophilia screen showed factor XII deficiency and genetic mutations of methylenetetrahydrofolate reductase (MTHFR), angiotesin convertin enzyme (ACE) and angiotensinogen (AGT). Two intravitreal injection of bevacizumab was administered with improving visual acuity; subsequently the patient did not report further episodes.


Discussion
In addition to traditional factors with procoagulant activity, factor XII deficiency plays an important role in thrombosis’s mechanism. Its deficiency causes a marked prolongation of the activated partial thromboplastin time in the laboratory examination. Moreover also MTHFR, ACE and AGT could have been involved in this case, so it is important to evaluate these parameters in the differential diagnosis of RVOs

Published
2019-06-05
How to Cite
GIANCOTTA, C. et al. Retinal vein occlusion in child with rare mutations in genes for thrombophilia. La Clinica Terapeutica, [S.l.], v. 170, n. 3, p. e163 - e167, june 2019. ISSN 1972-6007. Available at: <http://www.clinicaterapeutica.it/ojs/index.php/ClinicaTerapeutica/article/view/416>. Date accessed: 22 oct. 2019.
Section
Case Report