Autosomal dominant optic atrophy plus syndrome
ORPHA:1215· ICD-10 H47.2
Definition
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood