| Disease ID | Source | Name | Description |
| 616732 | OMIM | Optic atrophy 10 with or without ataxia, mental retardation, and seizures (OPA10) | An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild mental retardation and, rarely, generalized seizures. The disease is caused by variants affecting the gene represented in this entry. |