Ocular manifestations of mitochondrial disease

Mitochondrial disease caused by mutations in mitochondrial DNA is recognized as one of the most common causes of inherited neurological disease. Neuro-ophthalmic manifestations are a common feature of mitochondrial disease. Optic atrophy causing central visual loss is the dominant feature of mitochondrial DNA diseases. Nystagmus is also encountered in mitochondrial disease. Although optometrists are not involved with the management of mitochondrial disease, they are likely to see more patients with this disease. Ophthalmic examination forms part of the clinical assessment of mitochondrial disease. Mitochondrial disease should be suspected in any patient with unexplained optic neuropathy, ophthalmoplegia, pigmentary retinopathy or retrochiasmal visual loss. Despite considerable advances in the understanding of mitochondrial genetics and the pathogenesis of mtDNA diseases, no effective treatment options are currently available for patients with mitochondrial dysfunction.