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GENATLAS PHENOTYPE
last update : 13-09-2012
Symbol VMD2
Location 11q12.3
Name macular dystrophy, vitelliform 2, adult-onset
Other name(s)
  • foveomacular dystrophy, adult-onset, with choroidal neovascularization
  • Best macular dystrophy
    • Corresponding gene BEST1
    related resource Vitelliform macular dystrophy mutation database
    Other symbol(s) AVMD, AOFMD, BMD
    Main clinical features
  • characterized by the deposition of lipofuscine-like material within and below the retinal pigment epithelium (PRE), giving a typical egg-yolk macular aspect
  • associated with degeneration of the RPE and overlying photoreceptors and abnormal electro-oculographic findings
    • Genetic determination autosomal dominant
    Related entries . including macular dystrophy, vitelliform type (OMIM 153700), age-related maculopathy, and bull's eye maculopathy ( OMIM 153870)
    Function/system disorder eye
    Type disease
    Gene product
    Name bestrophin (VMD2), mostly missense mutations
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)
  • the defective proteins were predominantly retained in the cytoplasm, whereas wild-type bestrophin-1 revealed cell membrane localization (PMID: 21878505))
  • defective intracellular trafficking could be a common cause of BMD accompanied by impaired anion conductance, representing a loss of anion channel function that is probably due to mistargeting of mutant protein (PMID: 21878505))