Ontology highlight
ABSTRACT:
SUBMITTER: Van Bergen NJ
PROVIDER: S-EPMC5436186 | biostudies-other | 2011
REPOSITORIES: biostudies-other
Van Bergen Nicole J NJ Chakrabarti Rahul R O'Neill Evelyn C EC Crowston Jonathan G JG Trounce Ian A IA
Eye and brain 20110926
The clinical significance of disturbed mitochondrial function in the eye has emerged since mitochondrial DNA (mtDNA) mutation was described in Leber's hereditary optic neuropathy. The spectrum of mitochondrial dysfunction has become apparent through increased understanding of the contribution of nuclear and somatic mtDNA mutations to mitochondrial dynamics and function. Common ophthalmic manifestations of mitochondrial dysfunction include optic atrophy, pigmentary retinopathy, and ophthalmoplegi ...[more]