[MIM 258 501]

(MGCA type 3, Costeff syndrome, optic  atrophy syndrome, optic atrophy type 3 autosomal recessive)

Rare: unknown incidence but prevalence of 1/10,000 in the Iraqi Jews population. Autosomal recessive transmission of a mutation of the OPA3 gene (19q13.2-q13.3). It is possibly a primary mitochondrial disease. 

Association of:

-         progressive optic atrophy in childhood; nystagmus

-         choreoathetosis appearing in childhood

-         3-methylglutaconic aciduria

Sometimes: dysarthria, cognitive deficiency, spastic paraplegia, ataxia

 Anesthetic implications: 

go to mitochondrial cytopathies

Références:

-        Anikster Y, Kleta R, Shaag A,  Gahl WA, Elpeleg O. 
Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews. 
Am J Hum Genet, 2001; 69:1218–24.   

Updated December 2019