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Choroideremia

ORPHA:180· ICD-10 H31.2

Definition

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.

Prevalence
1-9 / 100 000
Inheritance
X-linked recessive
Age of onset
Adolescent, Adult, Childhood