View abstract

This abstract is assigned to session PED & LOW: Pediatric Ophthalmology & Low vision Rehabilitation

Title

Familial exudative vitreoretinopathy : AD,AR en X -linked forms. Ophthalmological aspects and genetics

Purpose	The presentation and discussion of the various clinical signs and complications, the pathogenesis and the genetic aspects of familial exudative vitreoretinopathy (FEVR)
Methods	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.
Results	Findings and results will be presented at the meeting
Conclusion	FEVR 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.

Author 1

Last name	VAN NOUHUYS
Initials	C.E
Department	Canisius-Wilhelmina Ziekenhuis
City	Nijmegen