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 ?
Familial exudative vitreoretinopathy Results of surgical management.
Results of treatment of familial exudative vitreoretinopathy Annals of Ophthalmology 2000;32:212-218.
(12.) Chen ZY, Battinelli EM, Fielder A, Bundy's, Sims K, Breakefield XO, Craig IW A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy Nat Genet.
Dona et al., "ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature," Proceedings of the National Academy of Sciences of the United States of America, vol.
Schuil et al., "Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy," Investigative Ophthalmology & Visual Science, vol.
Nunziata et al., "Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity," Clinical Genetics, vol.
Trese, "Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy," Ophthalmology, vol.
Novel frizzled-4 gene mutations in Chinese patients with familial exudative vitreoretinopathy. Arch Ophthalmol.
A model for familial exudative vitreoretinopathy caused by LPR5 mutations.
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci.
Berrocal, "Familial exudative vitreoretinopathy in a premature child," Ophthalmic Surgery Lasers and Imaging, vol.

Medical browser ?
Full browser ?