Metabolomics. 2025 Sep 9;21(5):134. doi: 10.1007/s11306-025-02328-x.
ABSTRACT
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.
METHODS AND RESULTS: The blood and tear metabolomic profiles of 90 asymptomatic LHON mutation carriers followed for one year will be explored as a function of RNFL thickness and compared to those of a healthy control.
CONCLUSION: Identifying pre-clinical biomarkers would open a window for clinical trials.
PMID:40924311 | DOI:10.1007/s11306-025-02328-x