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 )

Relationships
is a type of: autosomal dominant disease optic atrophy