PMC9649972_01
(a) Case 1 Fundi at the disease onset: hyperemic optic disks, without vessel tortuosity, and with intraretinal hemorrhage at the superior arcade, central scotoma in the visual field, and normal PERG, delayed and decreased VEP 100. (b) Case 1 at the last check-up 14 years after the disease onset: pale and atrophic optic disks, small fenestrations in the central scotoma in the visual field, and thinning of the peripapillary RNFL. (c) Case 2 Fundi at the disease onset: Hyperemic optic disks, tortuotic blood vessels, central scotoma in the visual field, reduced PERG N95, delayed and decreased VEP 100. (d) Case 2 at the last check-up 12 years after the disease onset: Pale and atrophic optic disks, decreased visual field scotoma, and thinning of the peripapillary RNFL despite significant VA improvement.
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PMC9649972_02_fneur-13-1003046-g0001.jpg
F1
Fundoscopy was pathognomonic for LHON with circumpapillary telangiectatic microangiopathy, swelling of the retinal nerve fiber layer (RNFL) - pseudo edema, and vessel tortuosity without leakage on fluorescein angiography (Figure 1c and Supplementary Figure 1B). The electrophysiology showed decreased N95 wave and delayed and decreased VEP P100 (Figure 1c). VA improvement. Visual acuity improved to 0.7 (Figure 1d), whilst the visual field has been continuously improving during the follow-up period (Supplementary Figure 3). The delayed and decreased VEP P100 wave in the acute phase of the disease were present in both patients (Figures 1a,c).
Improvement in VA and color vision, modest in Case 1 and significant in Case 2 with complete recovery of color vision.
fneur-13-1003046-g0002.jpg
PMC9649972_02_fneur-13-1003046-g0002.jpg
F2
The visual acuity improvement in case 2 was accompanied by an almost complete recovery of the color vision, whilst there was no improvement of color vision in Case 1 (Figure 2).
PMC9649972_02
(a) Case 1 Fundi at the disease onset: hyperemic optic disks, without vessel tortuosity, and with intraretinal hemorrhage at the superior arcade, central scotoma in the visual field, and normal PERG, delayed and decreased VEP 100. (b) Case 1 at the last check-up 14 years after the disease onset: pale and atrophic optic disks, small fenestrations in the central scotoma in the visual field, and thinning of the peripapillary RNFL. (c) Case 2 Fundi at the disease onset: Hyperemic optic disks, tortuotic blood vessels, central scotoma in the visual field, reduced PERG N95, delayed and decreased VEP 100. (d) Case 2 at the last check-up 12 years after the disease onset: Pale and atrophic optic disks, decreased visual field scotoma, and thinning of the peripapillary RNFL despite significant VA improvement.
fneur-13-1003046-g0001.jpg
PMC9649972_02_fneur-13-1003046-g0001.jpg
F1
Fundoscopy was pathognomonic for LHON with circumpapillary telangiectatic microangiopathy, swelling of the retinal nerve fiber layer (RNFL) - pseudo edema, and vessel tortuosity without leakage on fluorescein angiography (Figure 1c and Supplementary Figure 1B). The electrophysiology showed decreased N95 wave and delayed and decreased VEP P100 (Figure 1c). VA improvement. Visual acuity improved to 0.7 (Figure 1d), whilst the visual field has been continuously improving during the follow-up period (Supplementary Figure 3). The delayed and decreased VEP P100 wave in the acute phase of the disease were present in both patients (Figures 1a,c).
Improvement in VA and color vision, modest in Case 1 and significant in Case 2 with complete recovery of color vision.
fneur-13-1003046-g0002.jpg
PMC9649972_02_fneur-13-1003046-g0002.jpg
F2
The visual acuity improvement in case 2 was accompanied by an almost complete recovery of the color vision, whilst there was no improvement of color vision in Case 1 (Figure 2).