Phenotypic and genetic differences of autosomal recessive bestrophinopathy and Best vitelliform macular dystrophy

Abstract

Bestrophinopathy encompasses a wide range, of overlapping phenotypes with potential onset in adolescence. Correct diagnosis is challenging but important for treatment with emerging genetic therapies. This study compares autosomal recessive bestrophinopathy (ARB), autosomal dominant vitelliform macular dystrophy (adVMD), and recessive vitelliform macular dystrophy (arVMD) to identify distinguishing clinical and genetic features to aid diagnosis and treatment.