{Reference Type}: Journal Article
{Title}: Photoreceptor changes in Leber hereditary optic neuropathy with m.G11778A mutation.
{Author}: Miao QM;Cheng YF;Zheng HM;Yuan JJ;Chen CZ;
{Journal}: Int J Ophthalmol
{Volume}: 16
{Issue}: 6
{Year}: 2023
{Factor}: 1.645
{DOI}: 10.18240/ijo.2023.06.15
{Abstract}: <B>OBJECTIVE: </B>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).<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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).<BR><B>CONCLUSIONS: </B>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.