Abstract
Cumulative visual impact of two coagulability disorders were reviewed by presenting a case of a young female patient with a spontaneous abortion and two thromboembolic events in 8 years, whose visual function was severely affected. The particularities of her genetic constellation regarding the retinal circulation are also discussed. The patient developed a central retinal artery occlusion in the right eye during pregnancy in 2010, which led to an extended hematological workup that revealed presence of MTHFR C677T and MTHFR A1298C heterozygote mutations. The screening for myeloproliferative disorders showed JAK2 V617F gene mutation. Test results confirmed the diagnosis of thrombophilia and essential thrombocythemia and she was recommended permanent treatment with low molecular weight heparin, platelet antiaggregant, peripheral vasodilator and neuroprotectors. Despite the treatment, the patient developed central retinal vein occlusion in the fellow eye 8 years after the first thromboembolic event. The visual acuity for the right eye (0.9 logMAR) remained poor and the visual acuity for the left eye recovered completely (from 0.3 logMAR to 0 logMAR). However, new retinal artery or vein occlusions could occur in the future and there is also a risk of thrombosis in other areas, such as cerebral, pulmonary or renal, due to the general coagulability imbalance.