Retinal Vein Branch Occlusion and N. Abducens Palsy with the Protein S Deficiency: A Genealogical Evidence
Holak N.1, Holak H.1, Ernst S.2, Holak S.3
1Gemeinschaftspraxis der Augenärzte im Rudolf-Virchow-Ärztehaus, Salzgitter; 2Augenklinik des städtischen Klinikums Braunschweig; 3Augenabteilung der Schlosspark-Klinik, Berlin
Purpose: Protein S deficiency, which exists in 0,7% of the population, belongs to congenital causes of retinal vein branch occlusions and is inherited autosomal-dominantly. Heterozygotes have a five-fold higher risk for venous occlusions than normal.
Method: A genealogical study was carried out on three generations of one family who exhibited different venous occlusions und consecutive complications. All patients received a fluorescein angiography, analysis of protein C und S, APC-resistency ratio and analysis of chromosomes. MRI was additionally carried out for patients with cerebral symptomes.
Results: Four members of the family, spaning three generations, suffered from complications of venous thrombosis. In the first generation a grand uncle died of complications of a deep leg venous thrombosis. In the second generations, the mother underwent a venous branch thrombosis at the age of 41 with protein S activity of 18%. Subsequently, an abducens palsy developed with multiple cerebral lesions (presumably postthrombotic) in the MRI. Fluorescein angiography showed a typical picture of a venous branch occlusion which was treated with laser 8 years ago. In the third
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