Autosomal dominant optic atrophy plus syndrome

Orpha code: 1215OMIM code: 616648

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.

Disease data
Classification

Disease

Synonyms
DOA+
Atrofia nerwu wzrokowego - głuchota- polineuropatia - miopatia
DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
ORPHA code
1215
OMIM code
616648
ICD10 code
H47.2
ICD11 code
9C40.8

No additional description.

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