2025/09/26 by Pennesi, Mark, Dushyantha Wariyapola, Lindamulage, Suneth Dayan +1
#ARB #Autosomal Recessive Best #Autosomal Recessive Best Disease #Autosomal Recessive Bestrophinopathy #BEST1 #Bestrophinopathy #Congenital #Diseases #EOG #Eye Diseases #Hereditary #Inherited Retinal Disease #Medical Genetics #Medical Molecular Biology #Medical Sciences #Medical Specialties #Medicine and Health Sciences #Ophthalmic Genetics #Ophthalmology #Translational Medical Research #Vision Electrophysiology #and Neonatal Diseases and Abnormalities
paper · doi:10.17605/osf.io/zhrc8
This project presents the first genetically confirmed cohort of Autosomal Recessive Bestrophinopathy (ARB) from Sri Lanka, an extremely rare inherited retinal disease, together with a scoping review of the global ARB literature. The case series expands the known phenotypic and genotypic spectrum of ARB, documented through multimodal imaging, electrophysiology, and Whole Exome Sequencing (WES). The scoping review synthesizes evidence on ARB’s phenotypic spectrum, molecular mechanisms, and emerging therapeutic strategies, and will directly address the current critical gap in the ARB literature. Through international collaboration across ophthalmology, genetics, electrophysiology, and molecular medicine, this project not only documents cases from an underrepresented population but also contributes toward the translational readiness of ARB, highlighting future directions for personalized therapies.