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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
  • ICD-11: 9B70
  • OMIM: 126600  126700
  • UMLS: C1832174
  • MeSH: -
  • GARD: 1912
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.