Optical coherence tomography angiography findings in Williams-Beuren syndrome

• Published in: Graefe's archive for clinical and experimental ophthalmology 2024-04, Vol.262 (4), p.1131-1140
• Main Authors: Nassisi, Marco, Mainetti, Claudia, Sperti, Andrea, Galmozzi, Guido, Aretti, Andrea, Leone, Gaia, Nicotra, Valeria, Grilli, Federico, Rinaldi, Berardo, Natacci, Federica, Bedeschi, Maria Francesca, Viola, Francesco
• Format: Article
• Language: English
• Subjects: Adult; Angiography; Cross-Sectional Studies; Eye; Female; Fluorescein Angiography - methods; Genetic analysis; Genetic disorders; Humans; Medical imaging; Medicine; Medicine & Public Health; Microvasculature; Ophthalmology; Retina; Retinal Disorders; Retinal Vessels; Sexually transmitted diseases; STD; Tomography; Tomography, Optical Coherence - methods; Williams Syndrome - diagnosis
• ISSN: 0721-832X; 1435-702X; 1435-702X
• DOI: 10.1007/s00417-023-06323-7

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