optic atrophy 5

An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.

Signs and symptoms

• Abnormality of pattern visual evoked potentials
• Optic atrophy
• Optic disc pallor
• Constriction of peripheral visual field
• Central scotoma
• Slow decrease in visual acuity
• Tritanomaly

Also known as: OPA5