{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Scarcella S"],"funding":["Ministero della Salute"],"pagination":["165"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10123965"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(1)"],"pubmed_abstract":["<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 descri"],"journal":["BMC neurology"],"pubmed_title":["Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation."],"pmcid":["PMC10123965"],"funding_grant_id":["Ministero della Salute"],"pubmed_authors":["Mainetti C","Minorini V","Corti S","Dell'Arti L","Piga D","Velardo D","Govoni A","Scarcella S","Gagliardi D","Magri F","Ronchi D","Comi GP","Meneri M"],"additional_accession":[]},"is_claimable":false,"name":"Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.","description":"<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 descri","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Apr","modification":"2025-04-22T12:04:58.414Z","creation":"2025-04-06T00:08:24.13Z"},"accession":"S-EPMC10123965","cross_references":{"pubmed":["37095452"],"doi":["10.1186/s12883-023-03198-3"]}}