| Disease ID | Source | Name | Description |
| 308905 | OMIM | Leber hereditary optic neuropathy modifier (LOAM) | A form of Leber hereditary optic neuropathy, a maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction and neurological defects have also been described in some patients. Leber hereditary optic neuropathy results from primary mitochondrial DNA mutations affecting the respiratory chain complexes, but mutations in modifier genes can influence disease expression. LOAM exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by MTND4 primary mutations, due to the action of mutations in PRICKLE3 as a modifier gene. The gene represented in this entry acts as a disease modifier. |