Overview
Wagner vitreoretinopathy is a rare autosomal dominant vitreoretinal degeneration caused by mutations in VCAN (versican), characterized by optically empty vitreous with avascular vitreous veils, progressive chorioretinal atrophy, night blindness, myopia, and cataract. It is allelic with erosive vitreoretinopathy (ERVR). Retinal detachment occurs in a subset of patients. The condition is slowly progressive and may be confused with Stickler syndrome clinically.
Genetics
Caused by splice-site mutations in VCAN (versican), affecting the extracellular matrix glycoprotein. Autosomal dominant.
| Gene | Locus | Inheritance | Notes |
|---|---|---|---|
| VCAN | 5q14.3 | AD | Versican; extracellular matrix glycoprotein; allelic with erosive vitreoretinopathy |
Clinical Presentation
Early
- Optically empty vitreous
- Myopia
- Night blindness
Progressive
- Chorioretinal atrophy
- Cataract
- Visual field loss
Advanced
- Retinal detachment (subset)
- Severe visual impairment
Diagnosis
- Slit-lamp: Optically empty vitreous with avascular veils
- Fundus: Chorioretinal atrophy, pigmentary changes
- ERG: Reduced rod and cone responses
- Genetic testing: VCAN sequencing
Current Research & Treatment
No approved treatments. Management focuses on monitoring for retinal detachment and surgical repair when needed. Distinction from Stickler syndrome is important for genetic counseling.
Active Clinical Trials
The following active clinical trials are investigating treatments for Wagner Vitreoretinopathy. Trial status and enrollment may change; always verify directly on ClinicalTrials.gov.