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North Carolina macular dystrophy

Synonym(s) CAPE dystrophy
Central areolar pigment epithelial dystrophy
Central retinal pigment epithelial dystrophy
North Carolina macular dystrophy, retinal 1
Progressive foveal dystrophy
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
  • H35.5
  • C0730294
  • C537835
MedDRA -


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.

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