biostudies-literatureScarcella SMinistero della Salute165https://www.ebi.ac.uk/biostudies/studies/S-EPMC10123965biostudies-literatureUnknown23(1)<h4>Background</h4>Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in the MT-TL1 gene are the most frequent causes for this disorder. Clinical manifestations may include stroke-like episodes, epilepsy, dementia, headache and myopathy. Among these, acute visual failure, usually in association with cortical blindness, can occur because of stroke-like episodes affecting the occipital cortex or the visual pathways. Vision loss due to optic neuropathy is otherwise considered a typical manifestation of other mitochondrial diseases such as Leber hereditary optic neuropathy (LHON).<h4>Case presentation</h4>Here we descriBMC neurologyIschemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.PMC10123965Ministero della SaluteMainetti CMinorini VCorti SDell'Arti LPiga DVelardo DGovoni AScarcella SGagliardi DMagri FRonchi DComi GPMeneri MfalseIschemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.<h4>Background</h4>Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in the MT-TL1 gene are the most frequent causes for this disorder. Clinical manifestations may include stroke-like episodes, epilepsy, dementia, headache and myopathy. Among these, acute visual failure, usually in association with cortical blindness, can occur because of stroke-like episodes affecting the occipital cortex or the visual pathways. Vision loss due to optic neuropathy is otherwise considered a typical manifestation of other mitochondrial diseases such as Leber hereditary optic neuropathy (LHON).<h4>Case presentation</h4>Here we descri2023-01-01T00:00:00Z2023 Apr2025-04-22T12:04:58.414Z2025-04-06T00:08:24.13ZS-EPMC101239653709545210.1186/s12883-023-03198-3