An autosomal dominant disorder (OMIM:133780) of retinal vasculature characterised by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. The loss of peripheral vessels causes ischaemia, triggering compensatory retinal neovascularisation.
The new vessels are prone to leakage and rupture, causing exudates and bleeding, followed by scarring, retinal detachment and blindness.
Clinical findings Highly variable, even within the same family. Patients with mild disease are asymptomatic, and only identified by an arc of avascular retina in the extreme temporal periphery. It physically resembles retinopathy of prematurity, in absence of evidence of prematurity or small birth weight in the patient history.
Molecular pathology Defects of FZD4, which encodes a member of the frizzled family of Wnt protein receptors, cause vitreoretinopathy—exudative 1.
Synonyms Criswick-Shepens syndrome, exudative vitreoretinopathy—familial—autosomal dominant, familial exudative vitreoretinopathy, familial exudative vitreoretinopathy—autosomal dominant