Background Thrombotic retinal vascular occlusive disease, central retinal vein occlusion (CRVO) and central retinal artery occlusion (CRAO), are well known causes of visual loss. They are often associated with familial thrombophilia, which may predispose to other thrombotic events⇓.
Specific aim We compared measures of thrombophilia in 77 women with retinal vascular occlusion, 16 with CRAO (mean±SD age 52±19) and 61 with CRVO (mean±SD age 64±17), compared to 62 healthy female controls (mean±SD age 44±12) without ocular thrombosis to better delineate the role of thrombophilia in retinal vascular occlusion.
Results Of 11 measures of thrombophilia, the 77 women with retinal vascular occlusion were more likely to have ≥1 abnormal level (90%) when compared to 62 normal female controls (44%, p<0.0001). Among the 77 women with RVO, homocysteine was elevated in 23%, compared to 0% in 62 normal female controls (p<0.0001). Factor VIII was elevated in 42%, compared to 11% in normal female controls (p<0.0001). Factor XI was elevated in 23%, compared to 4% in normal female controls (p=0.0020). Further analysis based on diagnosis of CRAO or CRVO in 77 total women with retinal vascular occlusion revealed that homocysteine was elevated in 13% of women with CRAO and in 26% of women with CRVO compared to 0% of 62 healthy normal female controls (p=0.04, <0.0001). Factors VIII and XI were elevated in 16 women with CRAO (38%, 25% [p=0.019, 0.021]) and in 61 women with CRVO (43%, 22% [p=0.0001, 0.0041]) compared to normal female controls (11%, 4%). The 16 women with CRAO were significantly more likely than normal female controls (27% vs 4%, p=0.019) to have low free protein S (<66%).
Conclusion By screening for thrombophilia in women with CRAO and CRVO who have early onset of disease, severe phenotypes, or lack typical risk factors of retinal vascular occlusion, ophthalmologists may assist in diagnosis of common familial thrombophilias. Appropriate diagnosis has relevance not only for retinal vascular occlusion, but also for obstetric and thrombotic outcomes in the probands and in their first-degree relatives.
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