(EVR, acronym for Exudative VitroRetinopathy )

Prevalence is unknown.

Although the causal genetic mutations are unknown in about 50 % of cases, some types have been identified:

• an autosomal dominant form associated with mutations of the FZD4 (11q14-q21) (EVR1, Criswick-Schepens syndrome) (MIM 133,780), LRP5 (11q13.4) (EVR4)[MIM 601 813], or ZNF408 (11p11.2)(EVR 6) [MIM 616 468] genes, or on the 11p13-p12 locus (EVR3)[MIM 605 750].  Some cases are associated with sensorineural deafness and developmental delay
• a recessive form associated with mutations of the LRP5 gene (11q13.4) (EVR6). Some patients also have reduced bone mass and a predisposition to fractures.
• an X-linked recessive form is associated with mutations of the NDP gene (Xp11.4-p11.3) (EVR2)[MIM 305 390].  It could be a minor form of Norrie's disease (see this term)
• some dominant or recessive cases is associated with mutations of the TSPAN12 gene (7q31.31) (EVR 5)[MIM 613 310] or CTNNB1 (3p22) (EVR7)[MIM 617 572]

Following the premature cessation of vascularization of the retina to the periphery, an avascular area persists in the temporal periphery of the retina. The clinical manifestations are very variable between patients of the same family and even between both eyes. In many patients, retinal abnormalities do not affect vision. Symptomatic individuals quickly develop peripheral vision disorders, flashes or floating objects. The main objective clinical signs are similar to those of retinopathy of prematurity: retinal detachment, stretched posterior retinal vessels, pulled optical disc and retinal folds. These ocular abnormalities are followed by complications, such as neovascularization and retinal exudates, retinal and vitreous hemorrhage, vitreoretinal traction, ectopic macula and cataracts. Strabismus and leukocoria have also been reported. Severe cases become blind in early childhood.

Anesthetic implications: 

frequent ophthalmic surgery, eye protection, bad vision.

References : 

-        van der Ende SR, Meyers BS, Capasso JE, Sasongko M, Yonekawa Y, Pihlblad M, Huey J,. Bedoukian EC, et al.
Severe Familial Exudative Vitreoretinopathy, congenital hearing loss, and developmental delay in a child with biallelic variants in FZD4.
JAMA Ophthalmol. doi:10.1001/jamaophthalmol.2022.2914

Updated: September 2022