The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
Boon CJF et al. - The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and adult-onset foveomacular vitelliform dystrophy, autosomal dominant vitreoretinochoroidopathy, the MRCS syndrome, and autosomal recessive bestrophinopathy. The genotype–phenotype correlations that are observed in association with BEST1 mutations are discussed. [more...]
|
|
|
