Wagner syndrome: Novel VCAN variant and prophylactic management with encircling band and retinopexy

Purpose: Wagner syndrome is an autosomal genetic vitreoretinopathy characterized by chorioretinal atrophy, avascular vitreous veils, reduced visual acuity and early retinal detachment in advanced cases. Management of Wagner syndrome usually results in observation then management of occurring complications.

Observations: We report the case of a 9-year-old girl presenting with supposed Wagner syndrome that we managed with prophylactic encircling band and retinopexy in both eyes. The genetic testing revealed a new variant in the intron 7 non canonical splice acceptor site, c.4004-12_4004-6delins17, that was also present in her father.

Conclusions and importance: The VCAN variant found in this proband and her father has not been described yet but shows high predictions of pathogenicity. The previous reported variants in VCAN intron 7 and the associated phenotype for both cases allowed us to attribute this variant to Wagner syndrome. In Wagner syndrome, management is usually curative. After prophylactic surgery in our case, the zones of retinal delamination were well supported by the scleral buckle, releasing the vitreoretinal tractions, and the additional laser focalized on the temporal zones of dehiscence secured the retina. An encircling band may be a good way to prevent RD in patients with Wagner syndrome at risk.