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North Carolina macular dystrophy

Disease definition

North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.

ORPHA:75327

  • Synonym(s):
    • CAPE dystrophy
    • CAPED
    • Central areolar pigment epithelial dystrophy
    • Central retinal pigment epithelial dystrophy
    • MCDR1
    • NCMD
    • North Carolina macular dystrophy, retinal 1
    • Progressive foveal dystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: H35.5
  • OMIM: 136550
  • UMLS: C0730294
  • MeSH: C537835
  • GARD: 9179
  • MedDRA: -

Additional information

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