optic atrophy 9

Term ID

DOID:0111442

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. https://www.ncbi.nlm.nih.gov/pubmed/25351951

References

• OMIM:616289

Ontology

Human Disease   ( DOID:0111442 )