Conditions / Genetic
optic atrophy 12
info · Genetic
An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11.
Signs and symptoms
- Peripheral axonal neuropathy
- Gait ataxia
- CSF oligoclonal immunoglobulin G bands
- Hypotonia
- Spastic gait
- Nystagmus
- Blindness
- Photophobia
- Dyschromatopsia
- Ophthalmoparesis