title: Genetic thrombophilia in patients with retinal vascular occlusion.
abstract: BACKGROUND
  This study was carried out to determine the prevalence of genetic thrombophilia in patients with retinal vascular occlusion.
  
  
  METHODS
  We investigated 116 consecutive patients with central retinal vein occlusion (CRVO, n = 48), branch retinal vein occlusion (BRVO, n = 33), central retinal artery occlusion (CRAO, n = 21), branch retinal artery occlusion (BRAO, n = 14). All patients underwent comprehensive tests for coagulation disorders including determinations of protein C, protein S, lupus anticoagulants, prothrombin gene mutation (G20210A), resistance to activated protein C (APCR), and were screened for vascular disease risk factors. APC resistance was confirmed by a PCR method to detect the factor V R506Q mutation. A PCR method was also used to detect the G20210A mutation. For comparative purposes, we screened 209 consecutive patients with deep vein thrombosis (DVT) and 581 patients with coronary heart disease (control group) for APC resistance.
  
  
  RESULTS
  13 (27%) of 48 patients with CRVO had the factor V R506Q mutation. The factor V R506Q mutation was detected in six (18%) of 33 patients with BRVO, but in only one patient with CRAO and in two patients with BRAO. Other thrombophilic defects were not detected. The APCR prevalence within the CRVO group was significantly increased when compared to the control group (8%). There was no significant difference in the factor V R506Q mutation prevalence between the CRVO group and the DVT group (19%).
  
  
  CONCLUSIONS
  The factor V R506Q mutation is the most common cause of genetic thrombophilia in patients with CRVO and has a similar prevalence as in DVT patients.
authors.affiliation: Department of Ophthalmology, Johannes-Gutenberg-University, Mainz, Germany. k.greiner@abdn.ac.uk
authors.forename: K
authors.initials: K
authors.lastname: Greiner
authors.forename: D
authors.initials: D
authors.lastname: Peetz
authors.forename: A
authors.initials: A
authors.lastname: Winkgen
authors.forename: W
authors.initials: W
authors.lastname: Prellwitz
authors.forename: N
authors.initials: N
authors.lastname: Pfeiffer
authors.forename: G
authors.initials: G
authors.lastname: Hafner
mesh_terms: D020016:Activated Protein C Resistance / Q000097:blood / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D016682:Lupus Coagulation Inhibitor / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011446:Prospective Studies; D011486:Protein C / Q000378:metabolism; D017293:Protein S / Q000378:metabolism; D011516:Prothrombin / Q000235:genetics; D015356:Retinal Artery Occlusion / Q000097:blood / Q000150:complications*; D012170:Retinal Vein Occlusion / Q000097:blood / Q000150:complications*; D019851:Thrombophilia / Q000097:blood / Q000235:genetics*
chemical_list: D016682:Lupus Coagulation Inhibitor; D011486:Protein C; D017293:Protein S; D011516:Prothrombin