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Optical coherence tomography angiography findings in Williams-Beuren syndrome

  • Retinal Disorders
  • Published:
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Abstract

Purpose

Williams-Beuren syndrome (WBS) is a rare genetic disease characterized by psychomotor delay, cardiovascular, musculoskeletal, and endocrine problems. Retinal involvement, which is not well characterized, has also been described. The purpose of this cross-sectional study is to describe the characteristics in optical coherence tomography (OCT) and OCT-angiography (OCTA) of patients with WBS.

Methods

We included patients with WBS confirmed by genetic analysis. The patients underwent OCT (30° × 25°, 61 B-scans) and OCTA (10° × 10° and 20° × 20°) examinations, all centered on the. Data on retinal thickness (total, inner and outer layers) and foveal morphology on OCT and vessel and perfusion density in OCTA (VD and PD, respectively) were collected. These data were compared with an age-matched control group.

Results

22 eyes of 22 patients with WBS (10 females, mean age 31.5 years) were included. Retinal thickness (and specifically inner retinal layers) in OCT was significantly reduced in all sectors (central, parafoveal, and perifoveal) compared to the control group (p < 0.001 in all sectors). Fovea in WBS eyes was broader and shallower than controls. The PD and VD in both 10 and 20 degrees of fields in OCTA was significantly reduced in patients with WBS, in all vascular plexa (all p < 0.001).

Conclusions

This study is the first to quantify and demonstrate retinal structural and microvascular alterations in patients with WBS. Further studies with longitudinal data will reveal the potential clinical relevance of these alterations.

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Acknowledgements

This work has been generated within the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) (EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516).

Funding

Partial financial support was received from the Italian Ministry of Health.

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Author notes

  1. Marco Nassisi and Claudia Mainetti contributed equally to this work.

Authors and Affiliations

  1. Ophthalmology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

    Marco Nassisi, Claudia Mainetti, Gaia Leone & Francesco Viola

  2. Department of Clinical Sciences and Community Health, University of Milan, Via F. Sforza 35, 20100, Milan, Italy

    Marco Nassisi, Andrea Sperti, Guido Galmozzi, Andrea Aretti & Francesco Viola

  3. Medical Genetics Unit, Department Woman Child Newborn, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy

    Valeria Nicotra, Federico Grilli, Berardo Rinaldi, Federica Natacci & Maria Francesca Bedeschi

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Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Marco Nassisi, Claudia Mainetti, Andrea Sperti, Guido Galmozzi, Andrea Aretti, Gaia Leone, Valeria Nicotra, Federico Grilli and Berardo Rinaldi. Federica Natacci, Maria Francesca Bedeschi and Francesco Viola supervised the study. The first draft of the manuscript was written by Marco Nassisi and Claudia Mainetti and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Marco Nassisi.

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Ethical approval

All procedures performed in the study involving human participants were in accordance with the ethical standards of the Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. The study protocol was approved by the local ethics committee (Comitato Etico Milano Area 2, protocol n.1179 of the 29th of April 2022).

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Informed consent was obtained from all individual participants or legal guardians after explanation of the study and its potential outcomes.

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Nassisi, M., Mainetti, C., Sperti, A. et al. Optical coherence tomography angiography findings in Williams-Beuren syndrome. Graefes Arch Clin Exp Ophthalmol 262, 1131–1140 (2024). https://doi.org/10.1007/s00417-023-06323-7

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