Wagner syndrome (WS; OMIM143200) is a rare inherited vitreoretinopathy caused by mutations in the canonical consensus sites of exon 7 or 8 of the versican gene (VCAN), leading to an aberrant imbalance of its 4 encoded isoforms.1-3 Although this ocular disorder is clinically very heterogeneous, it is characterized by an optically empty vitreous with no systemic features.1 Only a limited number of families with WS have had the WS confirmed at the molecular level, but all WS-associated VCAN mutations have been shown, until now, to be transmitted through several generations as an autosomal dominant trait with complete penetrance.4
Rothschild P, Audo I, Nedelec B, et al. De Novo Splice Mutation in the Versican Gene in a Family With Wagner Syndrome. JAMA Ophthalmol. 2013;131(6):805–807. doi:10.1001/jamaophthalmol.2013.681
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