Molecular Consequences of<i>BEST1</i>Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies

Abstract

Molecular evaluation of cmr mutations in vivo and in vitro constitutes the next step toward elucidating genotype-phenotype interactions concerning human bestrophinopathies and emphasizes the importance of the canine models for studying the complexity of the BEST1 disease mechanism.