A Novel Homozygous BEST1 Mutation Correlates with Complex Ocular Phenotypes
The BEST1 gene has been implicated in distinguishable ocular diseases ranging from macular degeneration to nanophthalmos. Homozygous BEST1 mutations were previously associated with several diseases including autosomal-recessive bestrophinopathy (ARB), which was characterized by macular degeneration with scattered punctate deposits and accumulation of fluid within and/or beneath the neurosensory retina. The significant clinical heterogeneity associated with BEST1 mutations requires an extensive genetic analysis and comprehensive clinical characterization of patients to better understand genotype–phenotype correlations.