Metabolomic Study of Healthy Adults With or Without NOHL mtDNA Mutations Based on Retinal Nerve Fiber Layer Thickness Using Optical Coherence Tomography

What this Trial Is About

Leber hereditary optic neuropathy LHON is a condition caused by mitochondrial DNA mutations that leads to severe vision loss. Researchers are investigating the metabolomic profiles and vitamin B3 and B9 levels in healthy individuals who carry these mtDNA mutations, with or without signs of optic nerve damage detected by optical coherence tomography OCT. The study aims to find biomarkers that identify early optic nerve damage before vision declines, considering differences in male and female prevalence. Participants will undergo metabolomic analysis based on OCT findings, focusing on the thickness of the retinal nerve fiber layer. The study separates groups by gender due to differing LHON prevalence and compares metabolomic data and vitamin levels in patients with and without increased optic fiber thickness. The intervention involves diagnostic OCT to assess optic disc and retinal nerve fiber layer characteristics. Throughout the study, participants will have OCT scans and metabolic profiling from blood and tear samples. Researchers will track changes in visual acuity and OCT measurements over one year, comparing profiles by gender and mutation status. The main outcome is the metabolomic profile related to optic nerve fiber layer thickness, with secondary outcomes including tear metabolomics, cellular profiles, vitamin levels, and clinical changes. Participation involves consenting adults aged 18 to 60 with or without the mtDNA mutations, monitored for one year.

Metabolomics Analysis According to the Retinal Nerve Fiber Layer in Patients With NOHL Mutations (MétabOCT)