OMIM | Reported locus | Causative gene | Families (n) | Clinical features | Reference | ||
OPA-3 | 606580 | 19q13.2–q13.3 | OPA3 | 2 | Optic atrophy + premature cataract | 152 | |
OPA-4 | 605293 | 18q12.2–q12.3 | Unknown | 1 | Optic atrophy* | 250 | |
OPA-5 | 610708 | 22q12.1–q13.1 | Unknown | 2 | Optic atrophy* | 251 | |
OPA-7 | – | 16q21–q22 | Unknown | 1 | Optic atrophy + deafness | 252 |
*Similar clinical phenotype to OPA1 positive families.