Wagner Vitreoretinal Degeneration (Wagner Syndrome), Erosive Vitreoretinopathy (ERVR)
Disease characteristics. VCAN-related vitreoretinopathy, which includes Wagner syndrome and erosive vitreoretinopathy (ERVR), is characterized by “optically empty vitreous” on slit-lamp examination and avascular vitreous strands and veils, mild or occasionally moderate to severe myopia, presenile cataract, night blindness of variable degree associated with progressive chorioretinal atrophy, retinal detachment at advanced stages of the disease, and reduced visual acuity. Systemic abnormalities are not observed. The first signs usually become apparent during early adolescence, but onset can be as early as age two years.
Diagnosis/testing. The clinical diagnosis of VCAN-related vitreoretinopathy is established based on typical clinical findings and a family history consistent with autosomal dominant inheritance. VCAN (previously CSPG2) is the only gene known to be associated with Wagner syndrome and ERVR. Molecular genetic testing is available on a clinical basis.
Management. Treatment of manifestations: Refractive error is corrected by spectacles or contact lenses; visually disabling cataract is treated by cataract surgery, preferably by an experienced surgeon. Retinal breaks without retinal detachment are treated with laser retinopexy or cryocoagulation. Vitreoretinal surgery is indicated for retinal detachment, vitreoretinal traction involving the macula, or epiretinal membranes
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