A V235L Mutation of the Human BEST1 Gene Associated with Best Macular Dystrophy with Intra-familial Clinical Variations

Abstract

Introduction: Best vitelliform macular dystrophy (BVMD) accounts for 1% of all cases of macular degeneration resulting in progressive loss of central vision. In this work we sought to evaluate the clinical and genetic background in a two generation pedigree of autosomal dominant BVMD for clinical management and follow up. To our knowledge this is the first report on association of Bestrophin 1 (BEST1) mutation with BVMD in an Indian family.