Term Name: optic atrophy 9
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 )

Relationships
is a type of: autosomal recessive disease optic atrophy