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Deze abstract is toegekend aan sessie PED & LOW: Pediatric Ophthalmology & Low vision Rehabilitation
TitelFamilial exudative vitreoretinopathy : AD,AR en X -linked forms. Ophthalmological aspects and genetics
DoelThe presentation and discussion of the various clinical signs and complications, the pathogenesis and the genetic aspects of familial exudative vitreoretinopathy (FEVR)
Methodes Long-term bservations done in a hospital based ophthalmological practice
( Nijmegen,1980-2008)
Some data from a recent FEVR multicenter study in the Netherlands are incorporated.
ResultatenFindings and results will be presented at the meeting
ConclusieFEVR is basically a hereditary disorder of development of the retinal vasculature. The disease can show a variety of signs and symptoms; expression can be very variable and asymmetric in both eyes .So far, three gene-defects have been identified (FZD4 and LRP5 in ad- EVR and Nd in X linked EVR). These three genes indicate a prominent role of the Wnt signaling cascade in the pathogenesis of FEVR.
Auteur 1
NaamVAN NOUHUYS
InitialenC.E
InstituutCanisius-Wilhelmina Ziekenhuis
StadNijmegen
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