| Disease ID | Source | Name | Description |
| 617302 | OMIM | Optic atrophy 11 (OPA11) | 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. OPA11 patients also manifest delayed psychomotor development, intellectual disability, ataxia, and leukoencephalopathy on brain imaging. The disease may be caused by variants affecting the gene represented in this entry. |