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Wagner syndrome

Synonyms
Erosive Vitreoretinopathy; Hyaloideoretinal degeneration of Wagner; VCAN-Related Vitreoretinopathy; WAGNER VITREORETINOPATHY; Wagner disease; Wagner disease (formerly); Wagner syndrome type 1; Wagner vitreoretinal degeneration
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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 in the advanced stages of disease, and reduced visual acuity. Optic nerve inversion as well as uveitis 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. [from GeneReviews]

Available tests

50 tests are in the database for this condition.

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Clinical tests (50 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CSPG2, ERVR, GHAP, PG-M, WGN, WGN1, VCAN
    Summary: versican

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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