[MIM 210 000]

Rare. Autosomal recessive transmission. 

Association of:

-         progressive optic atrophy

-         neurological disorders (spinocerebellar degeneration) with variable expression: epilepsy, progressive spastic paraplegia, dysarthria, mental retardation.

Visual and neurological manifestations are important from 10 years of age.

Similar events are observed in case of aciduria 3-methylglutaconic type III (see this term) due to a mutation of the OPA3 gene (19q13.2 - q13.3): it is then known as  Costeff syndrome. 

Anesthetic implications: 

Those are essentially related to the neurological disorders. 

References:

Updated: November 2019