gms | German Medical Science

102. Jahrestagung der DOG

Deutsche Ophthalmologische Gesellschaft e. V.

23. bis 26.09.2004, Berlin

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Autosomal dominant exudative vitreoretinopathy (adEVR) mutation of the FZD4 gene

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  • corresponding author U. Klär-Dißars - Department of Ophthalmology University Medical School, Lübeck
  • U. Orth - Institute of Human Genetics, University Hospital Eppendorf, Hamburg
  • A. Gal - Institute of Human Genetics, University Hospital Eppendorf, Hamburg
  • H. Laqua - Department of Ophthalmology University Medical School, Lübeck

Evidenzbasierte Medizin - Anspruch und Wirklichkeit. 102. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft. Berlin, 23.-26.09.2004. Düsseldorf, Köln: German Medical Science; 2004. Doc04dogSO.05.11

The electronic version of this article is the complete one and can be found online at: http://www.egms.de/en/meetings/dog2004/04dog461.shtml

Published: September 22, 2004

© 2004 Klär-Dißars 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

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Objective

The adEVR is a seldom, inherited disease of the human retinal vascular system with nearly 100 % penetrance of the mutation, and with greatly varied phenotype. In case of severely affected eyes this may lead to total blindness. Recently one of the EVR gene (chromosomes 11q13-23(EVR1)) was identified. This was the gene FZD4, a member of the proteins "frizzled", which plays an important role in in cell-differentiation and malignant cell-transformation. To date, 6 different FZD4 mutations are known.

Methods

We performed a complete ophthalmologic examination of two families with adEVR as well as a mutation screening of FZD4.

Results

Analysis of the first family detected a missens mutation (G492R), which had not been reported so far. The second family showed a deletion of 5 nucleotides (c.1286del5). Analysis of all affected family members showed the family specific mutation. However, clinical appearance of the disease varied substantially among the family members.

Conclusions

The FZD4 gene plays a key role in the retinal angiogenesis. For the human genetic advise the evidence of a mutation is not only of academic importance. As the retinal examination is particularly difficult with children, the analysis and exclusion of a mutation is also of practical importance.