Abstract
Purpose: To compare peripapillary choroidal vascularity among Leber's Hereditary Optic Neuropathy (LHON) patients at different stages of natural course and healthy controls using optical coherence tomography (OCT), and to evaluate peripapillary choroidal vascularity changes in LHON patients before and after gene therapy.Methods: 57 LHON patients and 15 healthy controls were enrolled in this prospective clinical study. LHON patients were divided into three duration groups based on stage of disease progression. Both patients and healthy controls underwent OCT scans focused on the optic disc at baseline with Heidelberg Spectralis, and patients underwent OCT at 1, 3, and 6 months after gene therapy. OCT images were converted and binarized using ImageJ software. Choroidal thickness (CT), total choroidal area (TCA), and choroidal vascularity index (CVI) in each quadrant of OCT images were measured to evaluate peripapillary choroidal vascularity.Results: At baseline, the average CT was not significantly different between LHON patients at different stages and between healthy controls (P = 0.468). Although average TCA and average CVI were slightly higher in LHON patients at different stages than in healthy controls, the difference was not statistically significant (P = 0.282 and 0.812, respectively). After gene therapy, The average TCA at 1 month after gene therapy was significantly higher than that before gene therapy (P = 0.003), while no significant differences were found in the average CT or average CVI in LHON patients before and 1,3 and 6 months after gene therapy using pairwise comparisons (all P > 0.05).Conclusions: No significant difference was found in choroidal vascularity of LHON patients at different stages and healthy controls. Choroidal vascularity seems to stay stable after gene therapy.
Highlights
Leber’s hereditary optic neuropathy (LHON) is a maternallyinherited mitochondrial disease that leads to acute bilateral loss of visual acuity (VA) and visual field in young adulthood [1]
Average total choroidal area (TCA) and average Choroidal vascularity index (CVI) were slightly higher in LHON patients at different stages than in healthy controls, the difference was not statistically significant (P = 0.282 and 0.812, respectively)
The average TCA at 1 month after gene therapy was significantly higher than that before gene therapy (P = 0.003), while no significant differences were found in the average choroidal thickness (CT) or average CVI in LHON patients before and 1,3 and 6 months after gene therapy using pairwise comparisons
Summary
Leber’s hereditary optic neuropathy (LHON) is a maternallyinherited mitochondrial disease that leads to acute bilateral loss of visual acuity (VA) and visual field in young adulthood [1]. LHON patients with the most common mutation site 11778G >A show the worst VA prognosis, and, nowadays, gene therapy targeting this mutation has proven to be the most promising treatment in our previous studies [2, 3]. The advent of optical coherence tomography (OCT) has enabled the visualization of structural features in the eyes of LHON patients, such as the progression of retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) pathology at different stages of the disease [5,6,7,8]. CVI has been applied in normal subjects and patients with various ocular pathologies including AION and glaucoma [11,12,13,14]. CVI has not been studied in LHON patients along the natural disease course or before and after gene therapy
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