04/11/2026
Familial exudative vitreoretinopathy (FEVR)
A comet's tail is the closest thing to nothing that anything can be
Today’s case was submitted by João Pedro Marques (, Coimbra University Hospital).
From
This healthy 6YO boy from Guinea-Bissau with long-standing low vision was referred due to a family history of familial exudative vitreoretinopathy (FEVR) in an older brother and maternal uncle. Vision was 20/400 OD and no light perception OS.
Fundus examination OD showed a falciform retinal fold, straightening of the temporal retinal vascular arcades and temporal macular dragging. There was a dense white cataract OS, with a total funnel-shaped retinal detachment noted on ultrasonography. Scatter laser and peripheral cryotherapy was applied throughout all ischemic retina. Postoperative Optos color RGB imaging shows the laser and cryotherapy scarring.
Familial variant testing confirmed the presence of the pathogenic c.362G>A p.(Arg121Gln) variant in hemizygosity in the NDP gene (NM_000266.4), establishing the diagnosis of X-linked FEVR.
Originally described by Criswick and Schepens (AJO 1969;58:578-594), familial exudative vitreoretinopathy (FEVR) can be inherited as an autosomal-dominant, recessive, or X-linked trait with high penetrance and variable expressivity. There are numerous genes associated with FEVR, including LRP5, FZD4, NDP, TSPAN12, ZNF408, CTNNB1 and KIF11 [Tao et al, Invest Ophthalmol Vis Sci 2021;62(15);4].
FEVR is characterized by peripheral temporal retinal avascularity, lipid exudation, peripheral neovascularization, tractional retinal detachment, and temporal dragging of the macula and retinal vessels. These findings are somewhat like those found with retinopathy of prematurity.