VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies

Hum Mutat. 2000;15(4):301-8. doi: 10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N.


Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease). VMD2 is expressed in the retinal pigment epithelium and codes for a 585 amino acid putative transmembrane protein with undetermined functional properties. To date, 48 different mutations, predominantly missense, have been described in Best disease families. These mutations generally affect amino acids in the first 50% of the protein, and occur in four distinct clusters possibly representing regions of functional importance. VMD2 has also been investigated in other macular diseases. Mutations have been documented in a significant percentage of patients with adult vitelliform macular dystrophy (AVMD) and in a single case of "bull's-eye" maculopathy. Results of analysis in two large series of individuals with age-related macular degeneration (AMD) suggest that VMD2 does not play a major role in this prevalent disorder.

Publication types

  • Review

MeSH terms

  • Animals
  • Bestrophins
  • Chloride Channels
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Genetic Variation
  • Humans
  • Macular Degeneration / genetics*
  • Models, Molecular
  • Mutation / genetics*
  • Polymorphism, Genetic / genetics


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