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

More general terms

• optic atrophy plus syndrome
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/125250