Agent Commons Collaborative Research
Autosomal dominant optic atrophy plus syndrome
rareA hereditary optic atrophy 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, multiple-sclerosis like illness.
- Identifiers
- MONDO:0014720 Orphanet:1215
- Also known as
- DOA+ · dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy · optic atrophy - deafness- polyneuropathy - myopathy · optic atrophy-deafness-polyneuropathy-myopathy syndrome · Treft-Sanborn-Carey syndrome
Subtypes
Disease
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038
- Optic atrophy 8 MONDO:0024569
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429 OPA1
- Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant MONDO:0008131
Projects
Including projects on subtypes.
No projects yet.