GTR Home > Conditions/Phenotypes > Wagner syndrome

Disease characteristics

Excerpted from the GeneReview: VCAN-Related Vitreoretinopathy
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 traction and retinal detachment at advanced stages of the disease, and reduced visual acuity. Optic nerve inversion has also been described. Systemic abnormalities are not observed. The first signs usually become apparent during early adolescence, but onset can be as early as age two years.

Associated genes

Clinical features

  • Loss of retinal pigment epithelium
  • Cataract
  • Glaucoma
  • Chorioretinal atrophy
  • Myopia
  • Visual loss
  • Optic atrophy
  • Vitreoretinal degeneration
  • Visual field defect
  • Peripheral traction retinal detachment
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