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ULTRA-WIDEFIELD EXAMINATION OF THE PERIPHERAL RETINA IN BEST1 -RELATED RETINOPATHY
Maurizio Battaglia Parodi1,2, Ahmad Mansour3, Andrea Saladino1,2
1Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Retina (Philadelphia, Pa.)
|March 31, 2026
Summary
Peripheral retinal changes are common in BEST1-related retinopathies, including white without pressure and dark without pressure findings. Ultra-widefield imaging revealed these alterations, particularly in autosomal recessive bestrophinopathy.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Imaging
Background:
- BEST1 gene mutations cause various inherited retinal diseases.
- Peripheral retinal involvement in these conditions is not well-characterized.
Purpose of the Study:
- To investigate peripheral retinal findings in BEST1-related retinopathies using ultra-widefield (UWF) imaging.
- To compare the prevalence of peripheral changes between patients and controls.
Main Methods:
- Observational, case-control study.
- Comprehensive ophthalmologic evaluation including UWF fundus photography and autofluorescence.
- UWF OCT for selected cases.
- Assessment of peripheral retinal changes like white/dark without pressure and vascular abnormalities.
Main Results:
- Patients with BEST1-related retinopathy showed significantly more peripheral alterations than controls.
- White without pressure (WWP) and dark without pressure (DWP) were most frequent, especially in autosomal recessive bestrophinopathy (ARB).
- Vascular abnormalities, including IRMAs and vessel tortuosity, were observed in nearly half of the eyes.
Conclusions:
- BEST1-related retinopathies present with diverse peripheral retinal changes.
- Retinal reflectance alterations are a key feature of these conditions.
