Wagner syndrome is a hereditary eye disease characterized by a central vitreous cavity which appears empty on slit-lamp examination. The condition was named after the Swiss ophthalmologist Hans Wagner, who described a family with this condition in 1938. Since then less than 50 families have been described. The first signs usually emerge during early adolescence, but onset may be as early as age 2. Wagner syndrome is caused by mutations in the VCAN gene. It is inherited in an autosomal dominant manner.
The symptoms of Wagner syndrome are quite variable, both within and between families. The most distinct feature is the vitreous. The vitreous is usually a jelly-like substance which cushions the eye. In individuals with Wagner syndrome, the vitreous is optically empty with just a condensation of vitreous at the circumference which is often lined with cord-like structures. This unusual presentation can be found in even young children. This primary manifestation leads to many secondary features which may include early cataracts (before age 40); degeneration and atrophy of the retina, the underlying retinal pigment epithelium (RPE) and the choroid; and retinal detatchment. Most individuals experience some degree of nearsightedness, night blindness and visual field restriction. Systemic abnormalities are not observed (the symptoms are confined to the eyes).
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal dominant inheritance||-|
|Peripheral traction retinal detachment||-|
|Retinal pigment epithelial atrophy||-|
|Visual field defect||-|
Wagner syndrome is caused by mutations in the VCAN (previously CSPG2) gene. This gene is located on the long arm (q) of chromosome 5 (5q14.3) and is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix (the material that surrounds and supports cells). This protein is involved in cell adhesion, proliferation, migration (movement) and angiogenesis (the formation of new blood vessels) and plays a central role in tissue morphogenesis and maintenance.
Wagner syndrome is inherited in an autosomal dominant manner which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent.
Treatment of Wagner syndrome is symptomatic and supportive. Refractive errors can be corrected by glasses or contact lenses. Cataracts should be removed via standard protocols by an experienced eye care professional. Retinal breaks can be treated with laser retinopexy or cryocoagulation. Retinal detachment requires incision surgery. All individuals with Wagner syndrome should be seen annually for ophthalmologic evaluation.
More information about the management of Wagner syndrome can be found through GeneReviews and the Wagner Syndrome Website. Click on the links to access this information.
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