Thrombophilic Factors in Retinal Vessel Thrombosis: A Single Center Experience

Background: Retinal Vessel Thrombosis (RVT) is an ophthalmologic emergency that can result in permanent vision loss. The retinal vessels are considered a rare site for thrombosis, obligating physicians to evaluate the underlying cause. Classic risk factors include hypertension, cardiovascular disease, diabetes, and glaucoma. In addition, there is a variable degree of association with inherited and acquired thrombophilia. Our aim is to describe our experience with eleven patients (pts) evaluated for inherited and acquired thrombophilia who presented with RVT.

Methods: Retrospective analysis.

Results: We reviewed the medical records of 11 consecutive pts seen in our institution between 2001 and 2015 who were referred with the diagnosis of RVT. Eight out of eleven were females and three were males; median age was 47 years, with an age range from 30 to 78. Clinical presentation was transient visual loss in the affected eye in 10 pts and persistent conjunctivitis in 1 pt. Laboratory evaluation of thrombophilia in blood samples showed the following: 1 pt had both factor V Leiden mutation (heterozygous) along with prothrombin-20210A mutation (heterozygous); 3 pts had MTHFR gene mutations (two were heterozygous and one was homozygous); 1 pt had MTHFR gene mutation and positive lupus anticoagulant; 1 pt had antiprothrombin antibodies and homocysteinemia; 1 pt had factor V Leiden (heterozygous); 1 pt had factor V Leiden (heterozygous) and elevated factor VIII; 1 pt had protein S deficiency and elevated factor VIII; 1 pt had anticardiolipin antibodies; and lastly 1 pt had no laboratory abnormalities found.

Conclusion: In our limited pt sample, we have found that retinal vessel thrombosis can be associated with inherited and acquired thrombophilia. The clinical implication of these findings remains incompletely understood and merits further research.