Table 4 Dominant optic atrophy loci reported in OPA1 negative families
OMIMReported locusCausative geneFamilies (n)Clinical featuresReference
OPA-360658019q13.2–q13.3 OPA32Optic atrophy + premature cataract152
OPA-460529318q12.2–q12.3 Unknown1Optic atrophy*250
OPA-561070822q12.1–q13.1 Unknown2Optic atrophy*251
OPA-7–16q21–q22 Unknown1Optic atrophy + deafness252

  • *Similar clinical phenotype to OPA1 positive families.