Ultra-Widefield Examination of the Peripheral Retina in BEST1-related retinopathy

PURPOSE: To investigate peripheral retinal findings in BEST1 -related retinopathies by means of ultra-widefield (UWF) imaging. METHODS: Observational, case-control study. All subjects underwent comprehensive ophthalmologic evaluation, including ultrawide-field fundus photography (UWF-FP) and UWF fundus autofluorescence, and selected cases also received UWF OCT. Peripheral retinal changes, including white or dark without pressure and vascular abnormalities, were assessed, and their prevalence was compared with a control group. RESULTS: Seventy-two eyes from 36 patients with BEST1 -related retinopathy (29 with autosomal dominant Best vitelliform macular dystrophy (BVMD), 14 eyes from 7 patients with autosomal recessive bestrophinopathy (ARB), and 78 eyes from 39 control subjects were enrolled. Compared to controls, patients had significantly higher odds of exhibiting peripheral alterations. White without pressure (WWP) and dark without pressure (DWP) were the most frequent findings, especially in ARB, where WWP and DWP were present in 86% of eyes. OCT imaging confirmed EZ reflectivity attenuation in areas of DWP, without signs of vitreous traction. Vascular abnormalities were detected in nearly half of all eyes, with intraretinal microvascular abnormalities (IRMAs) and vessel tortuosity more common in BVMD, and focal narrowing more frequent in ARB. Overall, peripheral changes were evenly distributed across Gass stages in BVMD. CONCLUSIONS: BEST1 -related retinopathies are associated with a spectrum of peripheral retinal changes, particularly retinal reflectance alterations.