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Wagner disease

Orpha number ORPHA898
Synonym(s) Dominant hyaloideoretinal dystrophy of Wagner
VCAN-related vitreoretinopathy
Vitreoretinal degeneration, Wagner type
Wagner syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • H35.5
ICD-O -
OMIM
UMLS
  • C0339540
  • C1840452
MeSH
  • C536075
MedDRA
  • 10063383
SNOMED CT
  • 232064001

Summary

Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.

About 100 patients with Wagner syndrome from only a few pedigrees have been described in the literature.

Affected patients typically exhibit low or moderate myopia, with only a few suffering from severe myopia. The disease has a juvenile onset with progressive nyctalopia and visual field constriction. Presenile cataract is a frequent cause of reduced central visual acuity. The hallmark of the disease is an optically empty central vitreous cavity and the presence of typical peripheral vitreous changes with fibrillary condensations, avascular strands and veils. The peripheral retina is progressively affected by pigmentary changes and chorioretinal atrophy. An abnormal pattern of dragged central retinal vessels (sometimes referred to as inverted papilla) and eventually pseudoexotropia due to an ectopic fovea are a common finding, usually not attributable to peripheral retinal traction. Retinal detachment is a relatively common complication in Wagner disease, the reported incidence rate varying from 7% to 50%. In a few patients, rhegmatogenous retinal detachment is due to flap tears or atrophic holes and occurs typically at a young age. More frequently, peripheral tractional retinal detachment is observed, occuring typically in middle-aged patients. In some cases, anterior chamber angle dysgenesis is observed.

Wagner disease is a connective tissue disorder affecting the collagen and is associated with mutations in the CSPG2 or VCAN gene (5q13-q14). CSPG2 encodes chondroitin sulfate proteoglycan-2, also known as versican. Versican constitutes 5-15% of the total protein content of the vitreous gel. It is a large proteoglycan that forms large complexes by binding to hyaluronic acid and other vitreous structural molecules. Erosive vitreoretinopathy (ERVR), originally described as a distinct clinical entity, is an allelic disease, and the same intronic mutation in GSPG2 has been found in a family with ERVR and four families with Wagner disease.

Diagnosis is based on the clinical picture. Molecular testing of CSPG2 mutations confirms the diagnosis.

Differential diagnosis includes Stickler syndrome, Goldmann-Favre disease, Familial Exudative Vitreoretinopahy, and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) (see these terms).

Wagner disease is inherited as an autosomal dominant trait with near complete penetrance but variable expressivity.

Regular ophthalmologic examinations should be performed. Retinal breaks without retinal detachment are treated by prophylactic laser- or cryocoagulation. For rhegmatogenous retinal detachment in a young patient, scleral buckling surgery or, less often, vitrectomy is performed. Tractional retinal detachment in the middle-aged or elderly patient requires often a combined procedure. Presenile cataract is treated by phacoemulsification and implantation of an artificial intraocular lens.

Overall prognosis seems to be moderate. In the original pedigree described by Wagner, about 50% of the affected members retained a useful vision of more than 20/40 after the age of 60.

Expert reviewer(s)

  • Dr Christoph AMSTUTZ

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Detailed information

Clinical genetics review
  • EN (2012)
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