metabolomics analysis according to the retinal nerve fiber layer in patients with nohl mutations (métaboct)

Conditions: Healthy Subjects; Leber Hereditary Optic Neuropathy

Summary: leber hereditary optic neuropathy (lhon), due to mitochondrial dna (mtdna) mutations, is responsible for profound visual impairment. however, there is evidence that optic nerve damage begins before vision declines. there is no biomarker to determine when optic nerve damage begins before visual acuity decline occurs. we hope that the analysis of metabolomics will reveal specific metabolomic profiles and different vitamin b3 and b9 levels depending on whether there are oct signs of optic nerve damage in healthy patients with mtdna mutations suggestive of lhon (11778, 3460 or 14484). the existence of an increase in the thickness of the optic fiber layer, whose normal values are well established, constitutes such a sign in favor of optic nerve damage.

the primary objective is to determine the metabolomic profile of healthy patients carrying an mtdna mutation suggestive of nohl (11778, 3460 or 14484) with or without increased thickness of the optic fiber layer in oct. given the difference in the prevalence of nohl in men and women, with a sex ratio of 7 men to 3 women, this primary objective will be evaluated separately in these 2 groups of people. secondary objectives include determination of the cellular metabolomic profile of healthy patients carrying an mtdna mutation suggestive of nohl (11778, 3460 or 14484) with or without increased thickness of the optic fiber layer in oct. determination of the metabolomic profile in tears of healthy with an mtdna mutation suggestive of nohl (11778, 3460 or 14484) with or without increased thickness of the optical fiber layer in oct. comparison of the serum and cellular metabolomic profile of healthy with an mtdna mutation suggestive of nohl (11778, 3460 or 14484) according to the existence or not of an increase in thickness of the optical fiber layer in macular oct and with a control population without mtdna mutation; determination of a different clinical and paraclinical (oct) evolution according to the metabolomic profiles. determination of vitamin b3 and b9 levels of healthy with an mtdna mutation suggestive of nohl (11778, 3460 or 14484) according to the existence or not of an increase in the thickness of the optical fiber layer in macular oct and with a control population without mtdna mutation. for the reasons mentioned above, the secondary objectives will be studied separately in men and women with the constitution of 2 groups of patients.

Eligibility criteria:
inclusion criteria: * patient carrying an mtdna mutation suggestive of nohl (11778, 3460 or 14484) with normal visual acuity and who has never had optic neuropathy, or patient not carrying an mtdna mutation suggestive of nohl (11778, 3460 or 14484) with normal visual acuity and who has never had optic neuropathy; * patient agreeing to undergo an oct; * patient agreeing to sign the informed consent; * patient affiliated to french social protection (primary health insurance fund, cmu, etc.) or european social protection. exclusion criteria: * patient with or having had optic neuropathy regardless of its etiology * patient with glaucoma regardless of its etiology; * patient not wanting to undergo oct; * patient not wanting to sign the informed consent; * patient not affiliated with french social protection (primary health insurance fund, cmu, etc.) or european. * patients less than 18 years old or over 60 years old * pregnant patient

Keywords: leber hereditary optic neuropathy metabolomics analysis oct mtdna mutation