Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.
OBJECTIVE
To evaluate the spectrum of morphologic abnormalities in patients with Wagner syndrome by spectral-domain optical coherence tomography (SD OCT).


METHODS
Retrospective comparative case study.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Cochin-Hôtel-Dieu, Service d'ophtalmologie, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Institut National de la Santé et de la Recherche Médicale, Centre de Recherche des Cordeliers, Unité Mixte de Recherche 1138, équipe 17, Paris, France. Electronic address: rothschild.pr@gmail.com.
Pierre-Raphael
PR
Rothschild
Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1163, Institut Imagine, Laboratoire de Génétique Ophtalmologique, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Cyril
C
Burin-des-Roziers
Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche _S968, Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7210, Paris, France; Université Pierre et Marie Curie Paris 6, Institut de la Vision, Paris, France; Centre Maladies Rares/Centre d'Investigations Cliniques 503 Institut National de la Santé et de la Recherche Médicale, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France; Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom.
Isabelle
I
Audo
Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1163, Institut Imagine, Laboratoire de Génétique Ophtalmologique, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Brigitte
B
Nedelec
Institut National de la Santé et de la Recherche Médicale, Centre de Recherche des Cordeliers, Unité Mixte de Recherche 1138, équipe 17, Paris, France; Université Paris-Descartes, Sorbonne Paris Cité, Assistance Publique-Hôpitaux de Paris, Laboratoire de Biologie et Génétique Moléculaire, Hôpital Cochin, Paris, France.
Sophie
S
Valleix
Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Cochin-Hôtel-Dieu, Service d'ophtalmologie, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Antoine P
AP
Brézin
D000328:Adult; D005260:Female; D005584:Fovea Centralis / Q000473:pathology*; D006801:Humans; D008297:Male; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000503:physiopathology; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence / Q000379:methods*; D053675:Versicans / Q000172:deficiency*; D014792:Visual Acuity; D014822:Vitreous Body / Q000473:pathology*
D053675:Versicans