Table 1

 Mutations reported in the OPA3 gene

PhenotypeMutationInheritanceReference
ADOAC, autosomal dominant optic atrophy with cataract; MGA, type III 3-methylglutaconic aciduria.
MGAIVS1-1G-CRecessiveAnikster et al14
MGA320–337delRecessiveKleta et al15
ADOAC277G>ADominantPresent study
ADOAC313C>GDominantPresent study