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Severe Subhyaloidal Hemorrhage Associated with Fibrinolytic Dysfunction

1Kuhli C., 2Scharrer I., 3Koch F., 1Ohrloff C., 3Hattenbach L.-O.,
1Johann-Wolfgang-Goethe-Universität, Klinik für Augenheilkunde (Frankfurt/Main)
2Johann-Wolfgang-Goethe-Universität, Medizinische Klinik I (Frankfurt/Main)
3Johann-Wolfgang-Goethe-Universität, Klinik für Augenheilkunde, Netzhaut- und Glaskörperchirurgie (Frankfurt/Main)

Purpose: Plasminogen activator inhibitor-1 (PAI-1), the primary inhibitor of tissue-type (t-PA) and urokinase-type (u-PA) plasminogen activator, is a critical regulator of the fibrinolytic system. Elevation of PAI-1 is associated with an increased risk of thrombosis. In contrast, congenital PAI-1 deficiency, an extremely rare genetic defect, is characterized by a bleeding diathesis. We report on a young woman with severe subhyaloidal hemorrhage associated with severe PAI-1 deficiency.
Case report: A 29-year-old woman presented with blurred vision in her right eye (OD) for four days. Her visual acuity was HM OD and 20/20 OS. Anterior segment examination and intraocular pressure were unremarkable in both eyes. Dilated fundus examination of her right eye revealed a massive subyaloidal hemorrhage at the posterior pole and scattered intraretinal hemorrhages. There was no venous dilatation or tortuosity, and fluorescein angiography did not show a delayed filling or leakage of the retinal veins. Moreover, there was no evidence for inflammatory changes, vessel malformations or tumor disease. Further investigation into possible causes included a laboratory screening for coagulation disorders. All tests were negative or normal, except for PAI-1 activity (0 U/ml, repeated investigations) and PAI-1 antigen, which was decreased to 1,6 ng/ml (reference range 3-25,8 ng/ml). After 10 weeks, the patient underwent pars-plana-vitrectomy. In the further course, the condition of the affected eye remained stable. Visual acuity improved rapidly to 20/30 OD.
Conclusions: In view of the absence of other risk factors, we believe this case most likely represents a bleeding disorder secondary to PAI-1 deficiency. In the absence of other defined etiologies, screening for fibrinolytic dysorders should be part of the routine work-up in young patients presenting with subhyaloidal or retinal hemorrhages.