Синдром аутосомно-домінантної атрофії зорового нерва плюс
ORPHA:1215· ICD-10 H47.2· Autosomal dominant optic atrophy plus syndrome
Визначення(English summary)
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.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Childhood