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Introduction <p>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.</p> Objectives <p>Search for a metabolomic signature characterizing this preclinical phase and identify biomarkers predicting the risk of LHON onset.</p> Methods and results <p>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.</p> Conclusion <p>Identifying pre-clinical biomarkers would open a window for clinical trials.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月9日

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  • Christophe Orssaud,
  • Pascal Reynier

摘要

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.