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North Carolina macular dystrophy

Disease definition

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

Classification level: Disorder
  • 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
  • ICD-11: 9B75.Y
  • OMIM: 136550
  • UMLS: C0730294
  • MeSH: C537835
  • GARD: 9179
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

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.