Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.

ABSTRACT:

Background

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).

Case presentation

Here we descri

SUBMITTER: Scarcella S 

PROVIDER: S-EPMC10123965 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature