Auditory neuropathy-optic atrophy syndrome
Auditory neuropathy-optic atrophy syndrome
Definition
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by onset of visual and hearing impairment in the first or second decades.
Also known as ANOA, auditory neuropathy and optic atrophy, multiple mitochondrial dysfunctions syndrome 9A — per MONDO