Zusammenfassung
Hintergrund: Darstellung neuer Vorstellungen zum Krankheitsbild der retinalen Angiomatose (RA), insbesondere zur Therapie. Methode: Mitteilungen über Krankheitsbefunde der Literatur zum v.-Hippel-Lindau-Syndrom (VHL-Syndom) sowie zur Differenzialdiagnose. Ergebnisse: Retinale und ZNS-Hämangioblastome sind die dominierenden Manifestationen der VHL-Erkrankung. Bei Patienten mit einer VHL-Erkrankung besteht die große Gefahr neu entstehender Läsionen der Organe, sodass lebenslang Kontrolluntersuchungen in regelmäßigen Abständen erforderlich sind. Eine genetische Beratung der Indexpatienten und der Familienangehörigen ersten Grades mit einer DNA-basierten Diagnostik ist erforderlich. Therapeutisch werden bei den am häufigsten vorkommenden kleinen peripheren retinalen Tumoren Laserkoagulationen, bei größeren hingegen die Kryoapplikation oder die Brachytherapie empfohlen. Die photodynamische Therapie wurde bei nur wenigen Patienten der Literatur erfolgreich durchgeführt. Bei Behandlung von Tumoren der mittleren Netzhautperipherie besteht die Gefahr zentraler Exsudate mit einer Visusminderung. Bisher liegen noch keine ausreichenden Erfahrungen über die Behandlung mit VEGF-Inhibitoren, Protonentherapie oder über die transpupilläre Thermotherapie vor. Bei ausgeprägten Fundusveränderungen mit einer Netzhautablösung sind kombinierte Verfahren mit einer Vitrektomie indiziert. Schlussfolgerung: Eine frühzeitige Diagnose und Therapie retinaler Hämangioblastome einschließlich einer Familienuntersuchung mit DNA-basierter Untersuchung sind erforderlich.
Abstract
Background: In this report we provide a description of new findings in retinal angiomatosis (RA) and, in particular, of treatment procedures. Method: A review of relevant publications in the literature has been carried out and remarks on differential diagnosis are provided. Results: Haemangioblastomas of the retina and the central nervous system are the dominant manifestations in von Hippel-Lindau syndrome (VHL). As in patients with VHL syndrome the danger of new tumours is great, lifelong follow-up examinations are necessary. A genetic counselling with a DNA-based test of index patients and first degree relatives is recommended. The most frequently occurring retinal peripheral small tumours should be treated with the laser, large tumours, however, with kryo. or brachytherapy. Photodynamic therapy was successfully carried out in some patients as described in the literature. Treatment of tumours in the retinal middle periphery may result in central exudates with visual deterioration. Up to now, no sufficient experience exists concerning treatment with VEGF inhibitors, proton therapy, or transpupillary thermotherapy. Large tumours with retinal complications such as retinal detachment should be treated with combined procedures, mainly with vitrectomy. Conclusions: An early diagnosis and treatment of retinal haemangioblastomas including examination of first-degree family members with a DNA-based test are necessary.
Schlüsselwörter
Auge - Tumor - v.-Hippel-Lindau-Syndrom - Hämangioblastom - Therapie
Key words
ocular diseases - tumours - von Hippel-Lindau syndrome - haemangioblastoma - therapy
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Prof. Dr. Dieter Schmidt
Univ.-Augenklinik
Killianstr. 5
79106 Freiburg
Phone: ++ 49/7 61/2 70 40 21
Fax: ++ 49/7 61/2 70 40 75
Email: Dieter.Schmidt@uniklinik-freiburg.de
