Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.

Abstract

To evaluate the spectrum of morphologic abnormalities in patients with Wagner syndrome by spectral-domain optical coherence tomography (SD OCT). Retrospective comparative case study. Institutional study of patients entered into the French Vitreoretinopathy Study Group database. Twelve eyes of 9 patients from 3 unrelated families with genetically confirmed Wagner syndrome and 28 eyes from 15 age- and sex-matched healthy family controls were scanned by SD OCT. Morphology and layer thickness of the total retina, inner retinal layers, outer retinal layers, and photoreceptor layer at different degrees of eccentricity from the fovea were compared between the 2 groups. A thick multilayered membrane adherent to the perifovea but completely detached from the fovea, thus forming a bridge over the foveal pit, was observed in 84% of eyes from patients with Wagner syndrome. At the equatorial area, SD OCT imaging allowed visualization of the architecture of an avascular vitreous veil with localized retinal traction. Most retinal layers were significantly thinner in patients with Wagner syndrome compared to the control group, except at the foveal center where abnormal persistence of 1 or more inner retinal layers could be observed. SD OCT provides better structural insight into the range of retinal defects at the vitreoretinal interface and fovea, which is not only useful for improving diagnosis and management, but also for understanding the pathogenesis of Wagner syndrome.