Williams-Beuren syndrome (WBS) is a rare genetic condition causing various health issues, including potential retinal problems, prompting this study to analyze the eye characteristics in WBS patients using advanced imaging techniques (OCT and OCTA).
The study included 22 patients with confirmed WBS, revealing significantly reduced retinal thickness, especially in the inner layers, and altered foveal structure compared to an age-matched control group.
Findings indicated decreased microvascular density and perfusion in patients with WBS, marking the first quantification of these eye changes, suggesting the need for further research to understand their clinical implications.