The afferent and efferent visual pathways within the central nervous system are frequently
involved in mitochondrial diseases. Neuro-ophthalmic signs figure prominently and
may be the presenting or even sole manifestation of these disorders. The four most
common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral
optic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal
visual loss.
Mitochondrial disease - optic neuropathy - Leber's hereditary optic neuropathy - ophthalmoplegia
- CPEO - MELAS - pigmentary retinopathy - encephalopathy - homonymous hemianopia -
cortical blindness