Optical coherence tomography angiography findings in Williams-Beuren syndrome

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 degrees x 25 degrees, 61 B-scans) and OCTA (10 degrees x 10 degrees and 20 degrees x 20 degrees) 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.

Automated summary

This study describes retinal structural and microvascular alterations in patients with Williams-Beuren syndrome (WBS). The results show significantly reduced retinal thickness, broader and shallower fovea, and decreased vessel and perfusion density in WBS patients. These findings are of clinical importance for further research on WBS.