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dominant optic atrophy plus syndrome
Genetics:
- associated with defects in OPA1
Clinical manifestations:
- onset in childhood
- insidious onset of visual loss
- sensorineural hearing loss
- variable presentation of other clinical manifestations, including
- progressive external ophthalmoplegia
- muscle cramps
- hyperreflexia
- ataxia
- wide range of intermediate phenotypes
General
optic atrophy plus syndrome
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 125250
References
OMIM :accession 125250