optic atrophy 1 (DOID:0111441)
Alliance: disease page
Synonyms: OPA1
Alt IDs: OMIM:165500
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.