Using WES on DNA from 8 affected members from a large family with clinical features of ADOA and subsequent targeted sequencing of the candidate gene in additional ADOA families, we identified for what we believe is the first time mutations in SSBP1 in 5 independent families with ADOA, thereby expanding the number of genes associated with ADOA. Here, SSBP1 is linked to autosomal dominant optic atrophy.