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North Carolina macular dystrophy

ORPHA:75327· ICD-10 H35.5

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Childhood