The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

Prog Retin Eye Res. 2009 May;28(3):187-205. doi: 10.1016/j.preteyeres.2009.04.002. Epub 2009 Apr 16.


Bestrophin-1 is an integral membrane protein, encoded by the BEST1 gene, which is located in the basolateral membrane of the retinal pigment epithelium. The bestrophin-1 protein forms a Ca(2+) activated Cl(-) channel and is involved in the regulation of voltage-dependent Ca(2+) channels. In addition, bestrophin-1 appears to play a role in ocular development. Over 120 different human BEST1 mutations have been described to date, associated with a broad range of ocular phenotypes. 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 (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome, and autosomal recessive bestrophinopathy. The genotype-phenotype correlations that are observed in association with BEST1 mutations are discussed. In addition, in vitro studies and animal models that clarify the pathophysiological mechanisms are reviewed.

Publication types

  • Review

MeSH terms

  • Animals
  • Bestrophins
  • Chloride Channels / genetics*
  • Eye Diseases / genetics*
  • Eye Proteins / genetics*
  • Genotype
  • Humans
  • Mutation*
  • Ocular Physiological Phenomena / genetics
  • Phenotype


  • BEST1 protein, human
  • Bestrophins
  • Chloride Channels
  • Eye Proteins