Photoreceptor changes in Leber hereditary optic neuropathy with m.G11778A mutation
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Chang-Zheng Chen and Jia-Jia Yuan. Eye Center, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China.;


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Supported by the National Natural Science Foundation of China (No.82101115); Wuhan University Independent Innovation Fund Youth Project (No.2042021kf0094).

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    AIM: To evaluate the functional and structural changes of photoreceptors in patients and asymptomatic carriers with Leber hereditary optic neuropathy (LHON) using full-field electroretinography (FERG) and optical coherence tomography (OCT). METHODS: Individuals diagnosed with LHON at the Renmin Hospital of Wuhan University and their family members were included in this cross-sectional observational study. The FERG a-wave amplitude of affected patients and asymptomatic carriers was analyzed. The thickness of the outer nuclear layer (ONL), inner and outer segment (IS/OS) and total photoreceptors in the macular fovea and parafovea were measured. RESULTS: This study included 14 LHON patients (mean age: 20.00±9.37y), 12 asymptomatic carriers (mean age: 39.83±6.48y), and 14 normal subjects (mean age: 24.20±1.52y). The FERG results showed that the dark-adapted 3.0 electroretinography and light-adapted 3.0 electroretinography a-wave amplitudes of patients and carriers were significantly decreased (P<0.001). The ONL and photoreceptors layers were slightly thicker in patients than in normal subjects (P<0.05), whereas they were thinner in carriers (P<0.05). There were no differences in IS/OS thickness among the groups (P>0.05). CONCLUSION: Photoreceptors function is significantly impaired in LHON-affected patients and asymptomatic carriers. Meanwhile, photoreceptors morphology is slightly altered, mainly manifesting as a change in ONL thickness.

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Qing-Mei Miao, Yu-Fang Cheng, Hong-Mei Zheng, et al. Photoreceptor changes in Leber hereditary optic neuropathy with m. G11778A mutation. Int J Ophthalmol, 2023,16(6):928-932

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  • Received:November 01,2022
  • Revised:April 12,2023
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  • Online: May 30,2023
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