SSBP1 and optic atrophy: 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.