Objective To evaluate the changes in retinal nerve fiber layer (RNFL) thickness and macular ganglion complex (GCC) parameters in patients with Leber hereditary optic neuropathy (LHON). Methods This was a case-control study. Patients diagnosed with LHON were enrolled after the mitochondriaI DNA mutation test was shown to be positive (G11778A, G3460A, T14484C). Thirty-two LHON patients (64 eyes) together with 60 normal volunteers were evaluated. Among them, 18, 22 and 24 eyes were found to be in the early, progressive, and late stages, respectively. The optic nerve head and macula of all patients were scanned by Fourier-domain optic coherence tomography (FD-OCT). The following six parameters were measured, including RNFL, macular GCC, superior GCC, inferior GCC thickness, focal loss of volume (FLV) and global loss of volume (GLV). Data were analyzed with one-way ANOVA and a Dunnettt-test when a pairwise comparison was needed. Results Early-stage patients had a thicker RNFL in the superior temporal (ST), temporal upper (TU), temporal lower (TL), inferior temporal (IT), inferior nasal (IN), superior and inferior quadrants, as well as the 360° average compared to the normal controls (P<0.05). Progressive-stage patients had a thinner RNFL only in the TU, TL and NL quadrants (P<0.05). Late-stage patients had a thinner RNFL in each quadrant as well as the 360° average compared to normal controls and early-stage and advancing cases (P<0.05). For macular GCC parameters, three parameters were reduced in LHON patients (average GCC, superior and inferior GCC thickness) (F=61.7, 39.5, 61.5, P<0.01) and there was an increase in two parameters (GLV and FLV) compared to the normal control group (F=29.6, 40.8, P<0.01). Conclusion RNFL thickness and macular GCC parameters in LHON patients show distinctive features at different disease stages as revealed by OCT parameters. These findings can improve the understanding of the pathogenic course of LHON.
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