Overview

Familial exudative vitreoretinopathy (FEVR) is a hereditary condition, typically caused by mutations in the NDP, FZD4, LRP5, and TSPAN12 genes. Various inheritance patterns are possible, including X-linked recessive, autosomal dominant, and autosomal recessive patterns.

The condition is characterised by avascularity of the peripheral retina. This avascularity leads to retinal hypoxia and the release of VEGF with subsequent development of peripheral neovascularisation. This in turn leads to macular dragging and tractional retinal detachment. Subretinal exudation may also occur.

This condition has many similar features to retinopathy of prematurity and is most easily distinguished by a lack of history of prematurity.

Case Example

Differential Diagnosis

References

Gilmour, D. (2015) Familial exudative vitreoretinopathy and related retinopathies. Eye 29, 1–14

Ranchod, TM, Ho, LY, Drenser, KA, Capone, A. Trese,M. (2011) Clinical Presentation of Familial Exudative Vitreoretinopathy, Ophthalmology,Volume 118, Issue 10 Pages 2070-2075,