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WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family

  • Genetics
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Abstract

Purpose

To report the clinical (anatomic and functional) and genetic findings of Wagner Syndrome (WS) in a Portuguese family.

Methods

Nine members of the family agreed to be examined. All had complete clinical eye examinations. The proband and selected patients underwent color fundus photography, spectral domain optical coherence tomography (SD-OCT), automatic static white-on-white computerized perimetry, and electrophysiology assessment (flash ERG, multifocal(mf) ERG and dark adaptometry). A pedigree was constructed based on interviews with known affected subjects. Genomic DNA samples derived from venous blood were collected from all affected family members examined.

Results

Twenty-eight family members are affected. This family has the typical features of Wagner Syndrome, namely an empty vitreous cavity with veils, mild myopia and cataract. Four examined patients underwent vitreoretinal surgery due to abnormal peripheral vitreoretinal adhesions with peripheral retinal traction (n = 3). Retinal detachment was observed in 5 of the examined subjects. Four of them occurred between the ages of 5 and 15 years. Chorioretinal atrophy is also a frequent finding which results in moderate to severe visual field and advanced rod-cone dystrophy from younger ages, also confirmed by absence of scotopic function on dark adaptation. The macular dysfunction on mfERG was profound and of early onset. A heterozygous mutation in intron 7 of the VCAN gene (c.4004-1G > A) was found.

Conclusions

We described a rare autosomal dominant vitreoretinopathy with near complete penetrance in a Portuguese family. Abnormal peripheral vitreoretinal adhesions, retinal detachment and chorioretinal atrophy are present in most of the examined individuals at young ages. Early onset of advanced visual field and electrophysiologic abnormalities were observed in this family. We also added relevant information to the literature by reporting our experience in surgical management of Wagner Syndrome patients with, and at risk of, retinal detachment.

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Abbreviations

WS:

Wagner Syndrome

SD-OCT:

Spectral domain optical coherence tomography

ERG:

Electroretinograms

ISCEV:

International Society for Clinical Electrophysiology of Vision

BCVA:

Best corrected visual acuity

IOL:

Intraocular lens

PPV:

Pars plana vitrectomy

RD:

Retinal detachment

NLP:

No light perception

GAG:

Glycosaminoglycan

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Funding

No funding was received for this research.

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Authors and Affiliations

  1. Ophthalmology Department, S. João Hospital, Porto, Portugal

    Joana R. Araújo, João Tavares-Ferreira, Sérgio Estrela-Silva, Paulo Rocha, Elisete Brandão, Pedro Alves Faria, Fernando Falcão-Reis & Amândio Rocha-Sousa

  2. Department of Sense Organs, University of Porto, Porto, Portugal

    Pedro Alves Faria, Fernando Falcão-Reis & Amândio Rocha-Sousa

Authors
  1. Joana R. Araújo
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  2. João Tavares-Ferreira
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  3. Sérgio Estrela-Silva
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  4. Paulo Rocha
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  5. Elisete Brandão
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  6. Pedro Alves Faria
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  7. Fernando Falcão-Reis
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  8. Amândio Rocha-Sousa
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Corresponding author

Correspondence to Joana R. Araújo.

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Conflict of interest

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Araújo, J.R., Tavares-Ferreira, J., Estrela-Silva, S. et al. WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family. Graefes Arch Clin Exp Ophthalmol 256, 163–171 (2018). https://doi.org/10.1007/s00417-017-3800-0

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  • DOI: https://doi.org/10.1007/s00417-017-3800-0

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