familial exudative vitreoretinopathy


Also found in: Acronyms.

vitreoretinopathy, familial exudative  

An autosomal dominant disorder involving chromosome 11q, although some cases may be X-linked. It is characterized by abrupt cessation of peripheral vessels at the equator, especially on the temporal side, resulting in vitreous degeneration, peripheral telangiectasia and fibrovascular proliferation. Complications include subretinal exudation and tractional retinal detachment. Possible treatments include photocoagulation or cryopexy.
References in periodicals archive ?
Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.
Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.
Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy.
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
Retinal vascular pattern in familial exudative vitreoretinopathy.

Medical browser ?
Full browser ?