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Autosomal dominant optic atrophy and peripheral neuropathy

ORPHA:250932· ICD-10 H47.2

Definition

A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.

Inheritance
Autosomal dominant
Age of onset
Childhood