vitreoretinopathy, exudative type 5

vitreoretinopathy, exudative type 5

A retinal vasculopathy (OMIM:613310) characterised by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina and compensatory retinal neovascularisation, induced by hypoxia by an initial avascular insult. New vessels leak and rupture, causing exudates and bleeding, followed by scarring, retinal detachment and blindness.
 
Clinical findings
Highly variable; mild cases are asymptomatic and findings limited to an arc of avascular retina at the temporal periphery.

Molecular pathology
Caused by defects of TSPAN12, which encodes a tetraspanin protein that plays a central role in retinal vascularisation by regulating norrin signal transduction.