Mitochondrial diseases comprise a clinically heterogeneous group of disorders that involving multisystem,which resulting in dysfunction of mitochondrial respiratory chain and energy depletion.Optic neuropathy can present as the only isolated symptom and sign,as well as combined with other multisystem involved syndromes.Leber hereditary optic neuropathy and autosomal dominant hereditary optic atrophy are two most common type hereditary optic neuropathies due to mitochondrial dysfunction.With developments in genome sequencing technology and increased availability of genetic testing in recently years,more and more mitochondrial mutations and phenotypes related to optic atrophy are now recognized,including mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes(MELAS),Leigh syndrome,Wolfram syndrome,Charcot-Marie-Tooth disease,et al.In this review,we focus on the ophthalmic presentations of mitochondrial diseases,especially optic neuropathy.The clinical manifestations,systemic examinations,together with genetic testing will expand the cognition of mitochondrial disease among neuro-ophthalmologist,as well as precise diagnosis and treatment.
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