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Multimodal Imaging in Wagner Syndrome.

Akshay S Thomas, Kari Branham, Russell N Van Gelder

    Ophthalmic Surgery, Lasers & Imaging Retina
    |June 22, 2016
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    Wagner syndrome, a rare vitreoretinal disorder, presents with vision loss and retinal changes. Genetic testing for VCAN mutations aids diagnosis in suspected cases.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics
    • Retinal Diseases

    Background:

    • Wagner syndrome is a rare, inherited vitreoretinal disorder.
    • Characterized by progressive vision impairment and retinal abnormalities.
    • Limited case studies and genetic data exist.

    Observation:

    • Four patients with suspected Wagner syndrome were evaluated.
    • Clinical findings included depressed rod/cone function (electroretinography), outer retinal disruption (OCT), and constricted visual fields.
    • One patient showed perivascular chorioretinal atrophy on fundus autofluorescence.
    • Two patients experienced uveitis with cystoid macular edema.

    Findings:

    • Electroretinography revealed impaired rod and cone function in all four cases.
    • Spectral-domain optical coherence tomography showed outer retinal disruption.
    • Genetic testing confirmed VCAN mutations in three patients.
    • One patient had a VCAN variant of unknown significance.

    Implications:

    • This study expands the understanding of Wagner syndrome's clinical presentation.
    • Highlights the utility of electroretinography, OCT, and fundus autofluorescence in diagnosis.
    • Emphasizes the role of VCAN gene mutations in Wagner syndrome.
    • Suggests further research into VCAN variants and their pathogenicity.