
Bestmaculardystrophy(BMD)orvitelliformmaculardystrophy(VMD2),isanautosomalformofmaculardegeneration,characterizedbyadepressedlightpeakintheelectrooculogram(EOG).Itisinheritedandhasanearlyonset.Bestrophinisa68kDabasolateralplasmamembraneproteinencodedbytheVMD2gene.Bestrophinsfunctionisstillunknown,butdatasuggeststhatitisachloridechannelthatplaysaroleingeneratingthealteredEOGinBestdiseasepatients.Inaddition,BestrophinisausefulbiochemicalandhistologicalMarkerofRPE(retinalpigmentepithelialcells)cells.