gms | German Medical Science

22nd Annual Meeting of the German Retina Society

German Retina Society

26.06. - 27.06.2009, Berlin

Screening for retinal angiomatosis and VHL disease in relatives of ophthalmologic VHL patients

Meeting Abstract

  • Klaus-Martin Kreusel - DRK Clinics of Berlin Westend, Eye Centre
  • L. Krause - Eye Clinic of Dessau
  • L. Graul-Neumann - Charité University Clinic of Berlin, Human Genetics, Campus Virchow Clinic
  • H. P. H. Neumann - University Clinic of Freiburg, Internal Medicine
  • N. E. Bechrakis - University Eye Clinic of Innsbruck
  • M. H. Foerster - Charité University Eye Clinic of Berlin, Campus Benjamin Franklin

German Retina Society. 22nd Annual Meeting of the German Retina Society. Berlin, 26.-27.06.2009. Düsseldorf: German Medical Science GMS Publishing House; 2009. DocRG2009-50

DOI: 10.3205/09rg51, URN: urn:nbn:de:0183-09rg510

This is the translated version of the article.
The original version can be found at: http://www.egms.de/de/meetings/rg2009/09rg51.shtml

Published: June 29, 2009

© 2009 Kreusel et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.


Outline

Text

Background: To characterize the results of a screening for von Hippel-LIndau disease (VHL), retinal angiomatosis (RA) and further VHL lesions in relatives at-risk of ophthalmologic VHL index patients.

Methods: A retrospective analysis of 20 VHL index patients identified by the presence of angiomatosis retinae (AR) and a mutation of the VHL gene. To all available relatives at risk a molecular genetic test for a VHL mutation and funduscopy was offered. In case of a positive test result, repeated screening for AR and further VHL lesions was suggested.

Results: Fifty-one out of 86 first and second degree relatives were screened, and 73% showed a VHL mutation. At first presentation, asymptomatic AR was present in 55%, at the end of the study in 72% of gene carriers. In contrast to the index patients, angiomas were small and could be treatd without functional loss. During the study 4 eyes of index patients developed blindness, whereas in the affected relatives no such event occurred Affected relatives developed further VHL lesions to the same number and extent as index patients.

Conclusions: This study demonstrates the necessity of a screening of relatives at risk of patients with AR and VHL. Moleculargenetic screening allows an early identification of affected relatives. Early and regular screening allows detection of small retinal angiomas and treatment without functional loss.