Term Name: | optic atrophy 9 |
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Synonyms: | OPA9 |
Definition: | An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. |
Ontology: | Human Disease [DOID:0111442] ( DOID:0111442 ) |