What is the management and treatment of Wagner syndrome?

Wagner Syndrome: Management and Treatment

Wagner syndrome requires primarily surveillance with prophylactic surgical intervention for retinal complications, as there is no cure for this genetic vitreoretinopathy. Management focuses on preventing vision-threatening complications, particularly retinal detachment, which occurs frequently and at young ages in affected individuals.

Genetic Confirmation and Diagnosis

• Genetic testing for VCAN gene mutations should be performed to confirm the diagnosis, as heterozygous mutations in intron 7 (such as c.4004-1G > A) are characteristic of Wagner syndrome 1
• A novel variant c.4004-12_4004-6delins17 in the VCAN intron 7 splice acceptor site has been recently identified with high pathogenicity predictions 2
• Family screening is essential given the autosomal dominant inheritance pattern with near complete penetrance 1

Surveillance Protocol

Regular monitoring should include:

• Complete ophthalmologic examinations with particular attention to peripheral vitreoretinal adhesions and early signs of retinal traction 1
• Spectral domain optical coherence tomography (SD-OCT) to assess outer retinal disruption and macular changes 3
• Visual field testing, as constricted central fields with advanced rod-cone dystrophy develop from younger ages 1
• Electroretinography (flash ERG, multifocal ERG) to document progressive retinal dysfunction, including absence of scotopic function and profound macular dysfunction 1, 3
• Fundus autofluorescence imaging to characterize the perivascular pattern of chorioretinal atrophy 3

Prophylactic Surgical Management

Prophylactic encircling band with retinopexy should be strongly considered in high-risk patients to prevent retinal detachment 2. This approach is particularly important given that:

• Retinal detachment occurs in a significant proportion of Wagner syndrome patients, often between ages 5-15 years 1
• Abnormal peripheral vitreoretinal adhesions with peripheral retinal traction are common findings requiring surgical intervention 1
• The encircling band supports zones of retinal delamination, releases vitreoretinal tractions, and when combined with laser retinopexy focused on temporal zones of dehiscence, secures the retina 2

Management of Complications

Retinal detachment:

• Vitreoretinal surgery is indicated when retinal detachment occurs or when abnormal peripheral vitreoretinal adhesions with peripheral retinal traction are present 1
• Early surgical intervention is critical given the young age of onset in many cases 1

Cataract:

• Cataract formation is a common feature that may require surgical extraction, as it contributes to severe visual incapacitation in young adults 4

Uveitis and cystoid macular edema:

• Active inflammation and macular edema may occur and require appropriate anti-inflammatory treatment 3

Critical Pitfalls to Avoid

• Do not delay family screening: All relatives of affected persons should be screened for both ocular and nonocular features, as asymptomatic individuals identified early have improved long-term prognosis despite being at risk for serious ocular problems 5
• Do not underestimate the severity in young patients: Retinal detachment can occur as early as age 5, requiring vigilant monitoring from childhood 1
• Do not overlook electrophysiologic testing: Advanced visual field abnormalities and electrophysiologic dysfunction occur early and help guide management decisions 1

Prognosis and Long-term Considerations

• Wagner syndrome is a progressive condition with multiple ocular manifestations including empty vitreous cavity with veils, mild myopia, chorioretinal atrophy, and moderate to severe visual field loss 1, 4
• Despite the hereditary and progressive nature, prophylactic surgical management can prevent the most vision-threatening complication of retinal detachment 2
• Long-term surveillance remains necessary even after successful prophylactic or therapeutic interventions 1