Abstract

Combined cilioretinal artery and retinal vein occlusions are infrequently documented retinal vascular disorders. The role of genetic polymorphisms has been investigated. A 45-year-old woman presented with decreased visual acuity in her right eye. Fluorescein angiography demonstrated a cilioretinal artery occlusion associated with central retinal vein obstruction. Results of testing for the factor V Leiden were negative. However, the patient was heterozygous for the prothrombin G20210A mutation and the two polymorphisms (C667T and A1298C) of the methylenetetrahydrofolate reductase (MTHFR) gene. Specific genetic factors can be associated with retinal vascular occlusions.

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