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

Mutations in the gene VMD2 are associated with autosomal dominant vitellifo rm macular dystrophy (Best disease). VMD2 is expressed in the retinal pigme nt 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, an d occur in four distinct clusters possibly representing regions of function al importance. VMD2 has also been investigated in other macular diseases. M utations 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 wi th age-related macular degeneration (AMD) suggest that VMD2 does not play a major role in this prevalent disorder. Hum Mutat 15:301-308, 2000. (C) 200 0 Wiley-Liss, Inc.