Diagnosis and Management of Mitochondrial Neuro-Ophthalmologic Disorders: Translating Scientific Advances Into the Clinic

Once relegated to a footnote in reviews on neurode- generative disease, disorders of mitochondrial structure and function, whether the result of nuclear or mitochondrial DNA (mtDNA) abnormalities, are now recognized as major causes of neurodegenerative and multisystem diseases (1,2). Neuro-ophthalmologic manifestations figure prominently among these conditions. Indeed, the vast majority of mitochondrial disorders have some clinically-relevant neuro-ophthalmologic features either as the primary expression of the disease or as a secondary finding that helps define a syndrome and clinch a diagnosis (3). The most common neuro-ophthalmologic manifestations of mitochondrial disorders include vision loss from optic neuropathy or retinal degeneration, chronic progressive external ophthalmoplegia with ptosis, and retrochias- mal visual loss related to stroke-like episodes involving the posterior cerebrum.