Swiss pedigree

Barbara Kloeckener-Gruissem, Deborah Bartholdi, Marie-Therese Abdou, Dieter R. Zimmermann, Wolfgang Berger

Identification of the genetic defect in the original Wagner syndrome family.

Molecular Vision 2006; 12: 350-5

2006kloeckenerzurich.pdf

Graemiger RA, Niemeyer G, Schneeberger SA, Messmer EP.

Wagner vitreoretinal degeneration. Follow-up of the original pedigree.

Ophthalmology. 1995 Dec; 102(12):1830-9

1995graemigerzurich.pdf

D. M. Brown, R. A. Graemiger, M. Hergersberg, A. Schinzel, E. P. Messmer, G. Niemeyer, S. A. Schneeberger, L. M. Streb, C. M. Taylor, A. E. Kimura and al.

Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14

Archives of Ophthalmology, Volume 113, no 5, May 1995

1995browniowa.pdf

Irene Maumenee

The Wagner syndrome versus hereditary arthroophthalmopathy

Tr. Am. Opht. Soc. vol. LXXX, 1982

1982maumeneewilmer.pdf

Dutch pedigrees

Arijit Mukhopadhyay, Konstantinos Nikopoulos, Alessandra Maugeri, Arjan P. M. de Brouwer, C. Eric van Nouhuys, Camiel J. F. Boon, Rahat Perveen, Hester A. A. Zegers, Dienke Wittebol-Post, Pieter R. van den Biesen, Saskia D. van der Velde-Visser,

Han G. Brunner, Graeme C. M. Black, Carel B. Hoyng, and Frans P. M. Cremers

Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2 / Versican that result in an imbalance of splice variants.

Investigative Ophthalmology & Visual Science,

august 2006, vol 47, no 8

2006mukhopadhyaynijmegen.pdf

Rahat Perveen, Niki Hart-Holden, Michael J. Sixon, Wojtek Wiszniewski, Alan E. Fryer. Han G. Brunner, Alfred J.L.H. Pinckers, Sylvie E.C. van Beersum and Greame C.M. Black

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 57, 219-226 (1999)

In this article also the families of Fryer,1990 (W1) and Black (W2) are involved as is

the Dutch family of Jansen, 1966, family B (D1).

1999perveenmanchester.pdf

C. Erik van Nouhuys

Chorioretinal dysplasie in young subjects with Wagner hereditary vitreoretinal degeneration

Int. Ophthal. 3,2: 67-77, 1981

1981vannouhuysnijmegen.pdf

Pinckers A & Jansen L.M.A.A.

Wagner’s syndrome (degeneratio hyaloideo-retinalis hereditaria)

Documenta Ophthalmologica 37,2: 245-259, 1974

1974pinckersjansennijmegen.pdf

French pedigree

Jean-Christophe Zech, Laurette Morlé, Pascale Vincent, Nicole Alloisio

Muriel Bozon, Colette Gonnet, Solange Milazzo, Jean-Daniel Grange, Christiane Trepsat, Jacqueline Godet, Henri Plauchu

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14

Graefe’s Arch clin Exp Ophthalmol 237: 387-393 (1999)

1999zechlyon.pdf

Japanese pedigree

Tatsuro Miyamoto, Hiroshi Inoue, Yukiko Sakamoto, Eiji Kudo, Takeshi Naito, Takako Mikawa, Yoichi Mikawa, Yasushi Isashiki, Dai Osabe, Shuichi Shinohara, Hiroshi Shiota, and Mitsuo Itakura

Identification of a novel splice site mutation of the cspg2 gene in a Japanese family with Wagner syndrome

Investigative Ophthalmology & Visual Science,

august 2005, vol 46, no 8

2005miyamototokushima.pdf

Iijima Miho, Tanabe Teruyo, Takahashi Masayo

Vitreous Surgery for Tractional Retinal Detachment of the Macula Associated With Wagner Syndrome

Japanese Journal of Ophthalmic Surgery, 1999, Vol.12; no.3; page.365-368

1999mihokyoto.pdf

British pedigrees (Cambridge / Cardiff)

Sarah P Meredith, Allan J Richards, Declan W Flanagan, John D Scott, Arabella V Poulson and Martin P Snead

Clinical characterisation and molecular analysis of Wagner syndrome

Br. J. Ophthalmol. 2007, 91; 655-659

2007meredithcambridge.pdf

A E Fryer, M Upadhyaya, M Littler, P Bacon, D Watkins, P Tsipouras and P S Harper   

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome

10. J.Med. Genet. 1990;27;91-93
    

1990fryercardiff.pdf