Neuro-ophthalmic manifestations of mitochondrial disorders and their management

Abstract

The visual system has high metabolic requirements and is therefore particularly vulnerable to mitochondrial dysfunction. The most commonly affected tissues include the extraocular muscles, photoreceptors, retinal pigment epithelium, optic nerve and visual cortex. Hence, the most common manifestations of mitochondrial disorders are progressive external ophthalmoplegia, macular pattern dystrophy, pigmentary retinopathy, optic neuropathy and retrochiasmal visual field loss. With the exception of Leber hereditary optic neuropathy and stroke-like episodes seen in mitochondrial encephalopathy, lactic acidosis and stroke-like episodes, the majority of neuro-ophthalmic manifestations have an insidious onset. As such, some patients may not recognize subtle progressive visual symptoms. When mitochondrial disorders are highly suspected, meticulous examination performed by an ophthalmologist with targeted ancillary testing can help confirm the diagnosis. Similarly, neuro-ophthalmic symptoms and signs may be the first indication of mitochondrial disease and should prompt systemic investigations for potentially life-threatening associations, such as cardiac conduction defects. Finally, the ophthalmologist can offer symptomatic treatments for some of the most disabling manifestations of these disorders.