[MIM 143 200]

(Wagner's vitreoretinal degeneration)

Prevalence: < 1/106.  Ocular disease linked to the autosomal dominant transmission of mutations of the CSPG2 (or VCAN) gene (5q13-q14). This gene codes for a chondroitin sulfate proteoglycan-2 named versicane, which accounts for 5-15 % of the total protein content of the vitreous gel. 

Clinical presentation :

-         mild to moderate myopia, rarely severe.

-         onset in childhood with progressive nyctalopia and visual field narrowing. 

-         presenile cataract often leading to a decrease in central visual acuity. 

-         retinal detachment (sometimes early) in 7 to 50 % of cases.

At ophthalmological examination: an optically empty central vitreous cavity and typical peripheral vitreous abnormalities with fibrillary condensations, flanges or avascular veils. The peripheral retina is progressively affected by pigmentary degeneration and chorioretinal atrophy. A deviation in the course of the stretched central retinal vessels (often referred to as situs inversus) and pseudoexotropia due to foveolar ectopia are usually observed.

Dysgenesis of the anterior chamber angle is seen in some cases.

Erosive vitreoretinopathy is an allelic form of this syndrome.

Anesthetic implications: 

visual disturbances, eye protection. Frequent ophthalmological interventions

References : 

-        Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP.
Clinical characterisation and molecular analysis of Wagner syndrome.
Br J Ophthalmol 2007 ; 91 : 563

Updated: October 2023