Thrombophilia in Retinal Vessel Thrombosis.

Retinal vessel thrombosis (RVT) is the second most common retinal vascular disease after diabetic retinopathy, and is a common cause of visual morbidity. The role of thrombophilia in the pathogenesis of RVT remains under investigation.

Retrospective analysis. Between 2001 and 2009, the medical records and laboratory reports performed on patients (pts) with retinal vessel thrombosis who underwent thrombophilic evaluation were reviewed. The thrombophilic laboratory evaluation consisted of: Factor V mutation analysis, Factor II mutation analysis, Protein C activity, Protein S activity, antithrombin-III activity, Factor VIII activity, homocystein level, Methyl tetrahydrofolate reductase (MTHFR) C677T mutation analysis, and anticardiolipin antibodies.

9 pts were identified. All but 2 pts were females. Median age at diagnosis was 50 years (31-78). Factor V Leiden was found in 1 pt. MTHFR C677T heterozygous mutation was present in 4 pts, and in 2 of these, hyperhomocystinemia was present as well. Anticardiolipin antibodies were elevated in 6 pts, and in 2 pts it was the only laboratory abnormality. One pt with hyperlipidemia had a negative thrombophilic laboratory testing.

Although newer laboratory methods are able to detect coagulation defects, their clinical relevance in retinal vessel thrombosis requires additional research.

No relevant conflicts of interest to declare.