Auditory neuropathy-optic atrophy syndrome

Definition

A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.

Disease data

Classification

Disease

ORPHA code

542585

OMIM code

617717

ICD10 code

E88.8

ICD11 code

*Soruce