Variation in retinal nerve fiber layer thickness at different stages of Leber's hereditary optic neuropathy in patients with the ND4 G11778A mutation

Purpose: To investigate retinal nerve fiber layer (RNFL) thickness changes at different stages of Leber's hereditary optic neuropathy (LHON) in patients bearing the ND4 G11778A mutation.

Methods: Ninety-eight clinically diagnosed, G11778A-positive LHON patients underwent 538 optical coherence tomography (OCT) examinations from September 2015 to September 2017. Patients were grouped based on disease duration at examination. Fifty healthy volunteers underwent 100 examinations as controls. Differences in RNFL thickness were compared across groups.

Results: During the onset of LHON patients with G11778A mutation, the thickness of nerve fiber layer in temporal quadrant decreased slowly within 1-3 months (p > .05), then entered in the rapid thinning period, which generally lasted until about 12 months of the course of disease (p < .05), and no obvious change occurred in the stable stage (p > .05); The optic nerve fiber layer in other quadrants was usually stayed in a significant thickening period within 1-3 months (p < .05), then entered in the rapid thinning period, which generally lasted until about 24 months of the course of disease (p < .05), and no obvious change occurred in the stable stage (p > .05) .

Conclusion: In LHON patients with G11778A mutation, the thickness of optic nerve fiber layer in the temporal side will experience slow thinning stage, rapid thinning stage and stable stage; The thickness of optic nerve fiber layer in other directions varies with the course of disease. Generally, it will experience five periods: significant thickening period, swelling period, recovery period, rapid thinning period and stable period.