MetabOCT: a clinical trial looking for a metabolomic signature predicting the onset of Leber's hereditary optic neuropathy in healthy MtDNA mutations carriers.

Abstract excerpt

INTRODUCTION: The definition of Leber's hereditary optic neuropathy (LHON) does not take into account a preclinical phase during which the thickness of retinal nerve fiber layer (RNFL) is increased, prior to optic nerve atrophy, reducing the chances of visual recovery. OBJECTIVES: Search for a metabolomic signature characterizing this preclinical phase and identify biomarkers predicting the risk of LHON onset....

Topics

• Humans
• Optic Atrophy, Hereditary, Leber
• DNA, Mitochondrial
• Mutation
• Metabolomics
• Adult