Familial exudative vitreoretinopathy: an overview

Abstract

Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder, characterised by the abnormal development of retinal blood vessels. FEVR is marked by an avascular peripheral retina, which may give rise to a range of sight-threatening complications depending on the severity of the disease. FEVR and retinopathy of prematurity almost share the same ocular manifestations, but most FEVR cases are full-term. To date, several pathogenic genes have been reported to be associated with FEVR whose inheritance pattern may be autosomal dominant, autosomal recessive or X-linked. It has been proposed that defects in the Norrin/Frizzled4 signalling pathway play a role in the pathogenesis of FEVR. Fluorescein Angiography stands out as a standard approach for an accurate diagnosis, especially in early stages and asymptomatic cases. Regarding current treatments, laser coagulation of retinal avascular zones is a key for managing neovascularization and exudation, and surgical intervention is required in severe cases with progressive retinal detachment.