Angiomatosis retinae

D. Schmidt

doi:10.1055/s-2005-857911

Klinische Monatsblätter für Augenheilkunde, Table of Contents

Klin Monbl Augenheilkd 2005; 222(2): 90-109
DOI: 10.1055/s-2005-857911

Übersicht

Angiomatosis retinae

Retinal AngiomatosisD. Schmidt¹

¹Universitäts-Augenklinik, Freiburg

Herrn Prof. Dr. H. P. H. Neumann (Med.-Univ.-Klinik Freiburg) danke ich für die kritische Durchsicht des Manuskripts.

Abstract

Zusammenfassung

Hintergrund: Eine Angiomatosis retinae tritt sporadisch oder beim von-Hippel-Lindau-Syndrom[1] (VHL) auf. Zur Bewertung retinaler Hämangioblastome ist es erforderlich, das VHL als ein autosomal-dominantes Erbleiden und ein familiäres Multisystem-Tumor-Syndrom zu kennen. Methode: Literaturübersicht diagnostischer Möglichkeiten und therapeutischer Empfehlungen. Ergebnisse: Zu den Minimalkriterien des Syndroms gehören ein Merkmal des VHL eines Indexpatienten sowie zusätzlich eines Verwandten ersten Grads mit einer typischen Läsion des VHL. Bereits im Kindesalter können retinale Hämangioblastome auftreten, bei etwa 5 % der Patienten vor dem zehnten Lebensjahr. Die meisten Patienten mit Angiomatosis retinae erkranken im Alter zwischen zehn und 40 Jahren. Im Allgemeinen wird die Krankheit bis zum 30. Lebensjahr manifest. Das VHL-Gen stellt ein Tumor-Suppressor-Gen dar und wurde auf dem kurzen Arm des Chromosoms 3p25 nachgewiesen. Durch eine DNA-basierte Diagnostik kann das relative Risiko eines asymptomatischen Verwandten eines Genträgers schon früh nachgewiesen werden. Kleine retinale Hämangioblastome werden mit Photokoagulation, große Tumoren eher mit Kryokoagulation behandelt. Als zusätzliche neuere Methoden wurden Protonentherapie, Ruthenium-Bestrahlung, Pars-plana-Vitrektomie, photodynamische Therapie (PDT), transpupillare Thermotherapie und systemische Therapie zur Inhibition des vaskulären endothelialen Wachtstumsfaktors (VEGF) angegeben. Schlussfolgerung: Die seit mehr als 20 Jahren bestehende interdisziplinäre Freiburger VHL-Studie hat gezeigt, dass eine umfangreiche Familienuntersuchung zur Früherkennung der Erkrankung erforderlich ist. Wird ein Genträger ermittelt, so sind in regelmäßigen Abständen Kontrolluntersuchungen der multiplen und rezidivierend auftretenden Tumoren erforderlich.

Abstract

Background: 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. Methods: An overview of the diagnosis and therapy of VHL is presented. Results: 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. Conclusions: 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.

Schlüsselwörter

von-Hippel-Lindau-Syndrom - retinale Hämangioblastome - DNA-basierte Diagnostik - Photokoagulation - Kryotherapie

Key words

Retinal hemangioblastoma - von Hippel-Lindau syndrome - DNA probe studies - photocoagulation - cryotherapy

Full Text

References

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1 Die international verwendete Abkürzung „VHL” bedeutet Von-Hippel-Lindau-Syndrom.

Prof. Dr. Dieter Schmidt

Universitäts-Augenklinik

Killianstraße 5

79106 Freiburg

Email: schmidtd@aug.ukl.uni-freiburg.de