A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys–Dietz syndrome due to a pathogenic variant in <i>TGFBR2</i>
This case highlights the importance of a genotype to phenotype relationship in LDS and suggests that certain variants in <i>TGFBR2</i> may predispose to vitreoretinopathy. Recognition of this is important as timely anti-VEGF and laser intervention can limit visual threatening complications.
Authors
- Debarshi Mustafi (ORCID: https://orcid.org/0000-0002-9164-7488)
- Viridiana Hernandez-Lopez
- Mark Lindquist
Institutions
- Seattle Children's Hospital (US)
- University of Washington (US)
- The Retina Center (US)
- Brotman Baty Institute (US)
- Kaiser Permanente Tysons Corner Medical Center (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-09-29
- DOI
- https://doi.org/10.1080/13816810.2025.2565633
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00