optic atrophy 8

info · Genetic

An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22.

Signs and symptoms

Central scotoma
Abnormal auditory evoked potentials
Mitral valve prolapse
Visual loss
Abnormality of pattern visual evoked potentials
Sensorineural hearing impairment
Optic atrophy
Visual impairment
Prolonged somatosensory evoked potentials
Mitral regurgitation

Also known as: OPA8