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Case Reports
. 2024 Apr 18:34:102061.
doi: 10.1016/j.ajoc.2024.102061. eCollection 2024 Jun.

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

Ysé Borella  1 , Claire-Marie Dhaenens  2 , Olivier Grunewald  2 , Georges Caputo  1
Affiliations
Case Reports

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

Ysé Borella et al. Am J Ophthalmol Case Rep. .

Abstract

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.

Keywords: Pediatric retina; Prophylactic surgery; VCAN variant; Wagner syndrome.

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Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
Clinical aspect before surgery. (To note, panel C is after RE encircling band). A–B: Fundus aspect (pseudocolored, Optos). White ellipse shows the retinal lattice degenerations with retinal holes (schisis aspect) of the LE. C–D: Autofluorescence (Optos). E–F: OCT (Spectralis, Heidelberg engineering) showing slight disorganization of the retinal layers and epiretinal membrane at the vitreoretinal interface (yellow arrowheads). (For interpretation of the references to color in this figure legend, the reader is referred to the Web version of this article.)
Fig. 2
Fig. 2
Aspect 1 year after encircling band and laser of the 2 eyes. A–B: Fundus aspect (pseudocolored, Optos). Buckle is protrusive in both eyes and laser marks can be seen temporal posterior to the cerclage. Schisis zone of the LE is secured with posterior laser. C–D: Autofluorescence (Optos). E–F: OCT (Spectralis, Heidelberg engineering). A, C, E: RE. B, D, F: LE.
See this image and copyright information in PMC

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