Angiomatosis retinae

Abstract

Retinal capillary hemangioblastomas occur sporadically or as one of the manifestations of VHL (von Hippel-Lindau syndrome). In the assessment of retinal hemangioblastomas it is necessary to know about VHL, an autosomal dominant disease, a multisystem familial tumour syndrome. An overview of the diagnosis and therapy of VHL is presented. Minimal criteria of the syndrome are tumours in one index patient and one of the typical lesions in another first-degree relative. Retinal hemangioblastomas were already found in children. Only 5 % of patients with VHL present retinal capillary hemangioma before the age of 10 years, and most patients present between the ages of 10 and 40 years. Data suggest that retinal capillary hemangioma is usually manifested by the age of 30 years. The VHL gene functions as a tumour suppressor gene and is mapped to the short arm of chromosome 3p25. The mapping of a locus for VHL has offered the prospect of presymptomatic diagnosis of the disease using DNA markers. Small retinal tumours are treated by photocoagulation, big hemangioblastomas by cryotherapy. Modern options in treatment of retinal tumours are proton therapy, plaque radiotherapy, pars-plana vitrectomy, photodynamic therapy, transpupillary thermotherapy and systemic treatment with the vascular endothelial growth factor (VEGF) receptor inhibitor, in addition. The interdisciplinary Freiburg VHL study which has been in existence for more than 20 years, has shown that an extensive family screening for early detection of the disease is necessary. The assessment of the diagnosis in a VHL carrier requires close follow-up for multiple and recurrent tumours.