Abstract
Wagner syndrome is a vitreoretinal degeneration, which is not associated with systemic features. The condition is characterised by mild myopia and an ‘optically empty’ vitreous (historically this caused confusion with Stickler syndrome) and is also associated with early-onset cortical cataract and progressive chorioretinal atrophy. The disorder is caused by mutation in the gene encoding versican (VCAN).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Wagner H. Ein bisher unbekanntes Erbleiden des Auges, beobachtet im Kanton Zurich 1. Klin Monbl Augenheilkd. 1938;100:840–57.
Jansen LM. Degeneratio hyaloideo-retinalis hereditaria. Ophthalmologica. 1962;144:348–63 [PubMed].
Brown DM, Kimura AE, Weingeist TA, Stone EM. Erosive vitreoretinopathy. A new clinical entity. Ophthalmology. 1994;101:694–704.
Brézin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S. A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. Mol Vis. 2011;17:1669–78.
Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP. Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci. 2006;47:3565–72.
Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, Macdonald MJ, Nas V, Fry AE, Berger W. Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. Eur J Hum Genet. 2012. doi:10.1038/ejhg.2012.137.
Black GC, Perveen R, Wiszniewski W, Dodd CL, Donnai D, McLeod D. A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. Ophthalmology. 1999;106:2074–81.
Brézin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S. A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. Mol Vis. 2011;17:1669–78.
Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. Invest Ophthalmol Vis Sci. 2005;46:2726–35.
Perveen R, Hart-Holden N, Dixon MJ, Wiszniewski W, Fryer AE, Brunner HG, Pinkners AJ, van Beersum SE, Black GC. Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3. Genomics. 1999;57:219–26.
Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP. Clinical characterisation and molecular analysis of Wagner syndrome. Br J Ophthalmol. 2007;91:655–9.
Snead MP, et al. Stickler syndrome. Ocular only variants and a key diagnostic role for the ophthalmologist. Eye. 2011;25:1389.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2014 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Black, G.C.M. (2014). Wagner Syndrome. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_46
Download citation
DOI: https://doi.org/10.1007/978-3-540-69466-3_46
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-69464-9
Online ISBN: 978-3-540-69466-3
eBook Packages: MedicineMedicine (R0)