In this study, we identified a novel heterozygous mutation in SSBP1 (c.272G>A:p.Arg91Gln) in one family exhibiting symptoms of sensorineural deafness, optic atrophy, macular dystrophy, early cataract, and mitochondrial myopathy, which are all compatible with mitochondria disease. Here, SSBP1 is linked to hereditary optic atrophy.