Wagner vitreoretinopathy

Preferred Label : Wagner vitreoretinopathy;

Symbol : WGVRP;

CISMeF acronym : ERVR; WGN1; WGVRP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Wagner syndrome 1; Erosive vitreoretinopathy; Hyaloideoretinal degeneration of wagner; ERVR; WGN1; Wagner vitreoretinal degeneration;

Description : Wagner vitreoretinopathy is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chondroitin sulfate proteoglycan-2 gene (CSPG2, 118661.0001);

Prefixed ID : #143200;

Details

Origin ID

143200;

UMLS CUI

C1840452;

Automatic exact mappings (from CISMeF team)
- Erosive vitreoretinopathy [HPO term]
- VCAN wt Allele [NCIt concept]
- Wagner disease [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hyaloideoretinal degeneration of Wagner [MeSH concept]
- Wagner disease [Disease (Nov.)]
- Wagner disease [ORDO Disease]
- Wagner syndrome (disorder) [SNOMED CT concept]
- Wagner's disease [MedDRA Preferred Term]
- hyaloideoretinal degeneration of wagner [MeSH Supplementary Concept]
Genes related to phenotype
- Versican [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Chorioretinal atrophy [HPO term]
- Exudative vitreoretinopathy [HPO term]
- Glaucoma [HPO term]
- Myopia [HPO term]
- Optic atrophy [HPO term]
- Optically empty vitreous [HPO term]
- Peripheral tractional retinal detachment [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
- Visual field defect [HPO term]
- Visual loss [HPO term]
- Vitreoretinopathy [HPO term]
ORDO concept(s)
- Wagner disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Erosive vitreoretinopathy [HPO term]
- Hyaloideoretinal degeneration of Wagner [MeSH concept]
- Wagner disease [ORDO Disease]
- Wagner disease [Disease (Nov.)]
- Wagner syndrome (disorder) [SNOMED CT concept]
- Wagner's disease [MedDRA Preferred Term]
- hyaloideoretinal degeneration of wagner [MeSH Supplementary Concept]

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