Purpose: To quantitatively analyze the optic nerve alterations in chronic Leber's hereditary optic neuropathy (LHON) using reduced field-of-view diffusion tensor imaging (rFOV-DTI) and evaluate the correlation of diffusion parameters with visual functional and peripapillary retinal nerve fiber layer (RNFL) thickness.

Methods: Twenty-five patients (50 affected optic nerves) with chronic LHON and 28 healthy controls (56 normal optic nerves) were enrolled. The rFOV-DTI was performed in the bilateral optic nerves for all the subjects. The fractional anisotropy (FA), mean diffusivity (MD), principal eigenvalue (λ//), and orthogonal eigenvalue (λ⊥) were calculated for quantitative analysis. Visual field (VF) and visual acuity (VA) were measured in all subjects. The peripapillary RNFL thickness was assessed using optical coherence tomography (OCT). The correlation of DTI diffusion parameters with visual function and peripapillary RNFL thickness was evaluated.

Results: Compared with optic nerves in the control group, the mean FA was significant decreased (P<0.005), and the mean MD, λ//and λ⊥ significant increased (P<0.005). The average and temporal peripapillary RNFL thickness were significantly thinned in LHON patients. There was a significant correlation between optic nerve FA and VA, mean deviation of visual field (MD_VF) (P<0.005). Also, optic nerve FA correlated significantly with average RNFL thickness (P<0.05) but not with MD, λ//and λ⊥ (P>0.05). However, none of the DTI parameters correlated with age and disease duration (P>0.05).

Conclusions: Our study has demonstrated that rFOV-DTI could provide information of optic nerve damage in chronic LHON, and can serve as technique for detecting and evaluating pathological changes in the optic nerve in LHON.