[Acute anterior ischemic optic neuropathy in the context of mitochondrial disease]

Mitochondrial diseases can lead to highly heterogeneous clinical manifestations, including optic neuropathies, the prototypical form of which is Leber's hereditary optic neuropathy. We report the case of a 47-year-old man carrying a mitochondrial DNA mutation (m.13513G>A in the MT-ND5 gene), who, after exclusion of differential diagnoses, including Leber's hereditary optic neuropathy, presented with unilateral non-arteritic anterior ischemic optic neuropathy in the absence of cardiovascular risk factors. In this context, the hypothesis of a pathophysiological link between mitochondrial cytopathy and ischemia of the optic nerve head is discussed. Indeed, mitochondrial angiopathy, known to be associated with certain mitochondrial diseases, could represent a contributory mechanism through the microcirculatory disturbances it induces. This case suggests that certain mitochondrial mutations may represent an independent vascular risk factor and highlights the importance of considering a mitochondrial etiology in cases of atypical ischemic optic neuropathy, particularly in young patients without cardiovascular risk factors.