optic atrophy 9 (DOID:0111442)
Alliance: disease page
Synonyms: OPA9
Alt IDs: OMIM:616289
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.