title: [Recurrent incomplete central retinal vein occlusion in a patient with hereditary thrombophilia].
abstract: The aim of the study was to investigate the cause of recurrent monolateral incomplete central retinal vein occlusion in a 44-year-old woman and the association between retinal vein occlusion and factor V Leiden. Cardiovascular studies, color Doppler of the carotids, complete blood analyses, with immunoserology and coagulation tests were performed. Factor V:R 506Q and prothrombin 20210G/A mutation were tested by polymerase chain reaction and restriction enzyme analyses. DNA analyses showed the patient to be heterozygous for factor V:R 506Q mutation, MTHFR gene mutations and homozygous mutation in PAI-I. During 12-months follow-up, having starting taking vitamin B12, folic acid and acetylsalicylic acid, the patient stayed free from any other ocular systemic occlusive vascular accident. The R506Q factor V gene mutation may be associated with reccurrent incomplete central vein occlusion. Genetic studies should be promptly done in thrombotic patients to establish specific treatment. The complex etiology, inaccurate diagnosis and increase in the incidence of occlusion syndrome call for interdisciplinary approach including internists to better elucidate the etiology and to introduce appropriate methods of treatment.
authors.affiliation: Odjel za oftalmologiju, Opća bolnica Sibensko-kninske zupanije, Sibenik, Hrvatska.
authors.forename: Jasna
authors.initials: J
authors.lastname: Duić
authors.forename: Velka
authors.initials: V
authors.lastname: Gverić-Krecak
mesh_terms: D000328:Adult; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D012008:Recurrence; D012170:Retinal Vein Occlusion / Q000209:etiology*; D019851:Thrombophilia / Q000097:blood / Q000150:complications* / Q000235:genetics
chemical_list: D017395:Plasminogen Activator Inhibitor 1; C095381:factor V Leiden; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)