optic atrophy 9

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_i

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.

Signs and symptoms

• Reduced visual acuity
• Visual impairment
• Optic atrophy
• Red-green dyschromatopsia
• Paracentral scotoma
• Optic disc pallor

Also known as: OPA9