Conditions / Genetic
optic atrophy 10
info · Genetic
An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21.
Signs and symptoms
- Color vision defect
- Reduced visual acuity
- Optic disc pallor
- Photophobia
- Central scotoma
- Mild intellectual disability
- Ataxia
- Nystagmus
- Blind-spot enlargement
- Myoclonic seizure
Also known as: OPA10; optic atrophy 10 with or without ataxia, mental retardation, and seizures