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Best vitelliform macular dystrophy

Disease definition

Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.

ORPHA:1243

  • Synonym(s):
    • BMD
    • BVMD
    • Best disease
    • Best macular dystrophy
    • Early-onset vitelliform macular dystrophy
    • Juvenile-onset vitelliform macular dystrophy
    • Polymorphic vitelline macular degeneration
    • Vitelliform macular dystrophy type 2
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent
  • ICD-10: H35.5
  • OMIM: 153700
  • UMLS: -
  • MeSH: -
  • GARD: 182
  • MedDRA: -

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