Wagner syndrome
Wagner syndrome (WGN1; MIM 143200) also known as erosive vitreoretinopathy is an autosomal dominant disorder. It is caused by mutations in the chondroitin sulfate proteoglycan 2 gene (CSPG2), also called versican. This is a progressive disorder with childhood onset. The clinical findings can be numerous and include mild myopia, empty vitreous with fibrillary condensations, vitreoretinal degeneration, chorioretinal atrophy and loss of retinal pigment epithelium, optic atrophy, cataract, peripheral traction retinal detachment, and glaucoma. Impairment of dark adaptation, visual field defects, and visual loss occur with age. Wagner syndrome is often confused with Stickler syndrome. They both can present with a predominantly ocular phenotype involving myopia, retinal detachment and vitreoretinal degeneration. Wagner syndrome can be distinguished from Stickler syndrome by the lack of extra ocular findings. In addition, Wagner syndrome is associated with a lower incidence of retinal detachment and retinal degeneration, and mild to moderate myopia.
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