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Butterfly-shaped pigment dystrophy

Disease definition

A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.

ORPHA:99001

Classification level: Disorder
  • Synonym(s):
    • Butterfly-shaped pattern dystrophy
    • Butterfly-shaped pigmentary macular dystrophy
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: H35.5
  • OMIM: 169150  608970  610125
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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