| Term Name: | optic atrophy 1 |
|---|---|
| Synonyms: | OPA1 |
| Definition: | An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. |
| Ontology: | Human Disease [DOID:0111441] ( DOID:0111441 ) |