Detailed structural abnormalities associated with a novel <i>VCAN</i> variant in a family with versican vitreoretinopathy
Segregation of a versican-associated vitreoretinopathy supports the pathogenicity of the <i>VCAN</i> variant. The patterns of structural abnormalities support classical mechanisms of disease that involve local vitreoretinal traction, as well as possible alternative developmental and/or degenerative changes of the retina, RPE, and/or choroid that result from the primary molecular defect.
Authors
- Drew Scoles (ORCID: https://orcid.org/0000-0002-8942-5456)
- Tomás S. Alemán (ORCID: https://orcid.org/0000-0001-5709-0236)
- Jonathan C. Tsui (ORCID: https://orcid.org/0000-0002-3186-6267)
- Artur V. Cideciyan (ORCID: https://orcid.org/0000-0002-2018-0905)
- Alexander Sumaroka
- Emma Bedoukian (ORCID: https://orcid.org/0000-0003-3064-2488)
- Anny Zhong
- Erin O'Neil
- Emily Datz
Institutions
- Children's Hospital of Philadelphia (US)
- Penn Presbyterian Medical Center (US)
- Veterans Health Administration (US)
- California University of Pennsylvania (US)
- Veterans Biomedical Research Institute (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-03-26
- DOI
- https://doi.org/10.1080/13816810.2025.2483421
- Primary Topic
- Retinal and Macular Surgery
- Type
- article
- Field-Weighted Citation Impact
- 0.00