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Familial drusen

Disease definition

A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.

ORPHA:75376

Classification level: Disorder
  • Synonym(s):
    • DHRD
    • Dominant drusen
    • Dominant radial drusen
    • Doyne honeycomb retinal dystrophy
    • Malattia leventinese
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: H35.5
  • OMIM: 126600  126700
  • UMLS: C1832174  C1852020  C1852021
  • MeSH: -
  • GARD: 1912
  • MedDRA: -
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