You are using an outdated browser. Please upgrade your browser to improve your experience.

exudative vitreoretinopathy 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.
Uniprot Description A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.
Mondo Term and Equivalent IDs
MONDO:0014652:  exudative vitreoretinopathy 6
DOID:0111410: 
UMLS:C4225316: