PMC9291510_01
Accessory examinations of case 1. (A) Fundus photos showed diffuse pallor in the right eye and temporal pallor in the left eye, with tortuous retinal vein bilaterally. (B) OCT showed thinning of inferior-temporal RNFL in the right eye and severe GCIPL loss bilaterally. (C) Axial T2 Flair-weighted MRI of the brain showed hyperintense signal changes involving the posterior limbs of internal capsule, occipital lobes and corpus callosum indicating leukoencephalopathy. (D) Axial and (E) coronal T1-weighted MRI of orbits with gadolinium and fat suppression showed bilateral optic nerve slight enhancement. (F) Audiography showed bilateral neurosensory deafness.
fmed-09-912103-g001.jpg
PMC9291510_01_fmed-09-912103-g001.jpg
F1
Funduscopic examination showed diffuse pallor in his right eye and temporal atrophy of optic disc in his left eye, with bilateral tortuous retinal vein (Figure 1A). OCT demonstrated thinning of inferior-temporal retinal nerve fiber layer (RNFL) in the right eye and severe ganglion cell-inner plexiform layer (GCIPL) loss in both eyes (Figure 1B). T2 Flair-weighted magnetic resonance imaging (MRI) of the brain showed hyperintense signal changes involving the posterior limbs of internal capsule, occipital lobes and corpus callosum indicating leukoencephalopathy (Figure 1C). T1-weighted MRI of the orbits with gadolinium and fat suppression showed slight enhancement of the bilateral optic nerves in both axial (Figure 1D) and coronal (Figure 1E) views. The audiography demonstrated bilateral neurosensory deafness (Figure 1F).
PMC9291510_02
Accessory examinations of case 2. (A) Fundus photos showed temporal pallor of optic disc bilaterally. (B) Octopus visual fields showed central scotomas bilaterally. (C) OCT revealed inferior-temporal RNFL thinning in the right eye and temporal RNFL thinning in the left eye, with significant thinning of the GPICL bilaterally. (D) Brain MRI showed scattered T2 Flair-weighted hyperintense signal and orbital T1-weighted MRI imaging after contrast showed bilateral optic nerve atrophy without enhancement.
fmed-09-912103-g002.jpg
PMC9291510_02_fmed-09-912103-g002.jpg
F2
The fundus showed temporal pallor of the bilateral optic discs (Figure 2A). Octopus visual fields showed central scotomas in both eyes (Figure 2B). The OCT showed inferior-temporal RNFL thinning in the right eye and temporal RNFL thinning in the left eye, with significant thinning of the GCIPL in both eyes (Figure 2C). The brain MRI showed scattered T2 Flair-weighted hyperintense signal and orbital MRI only showed bilateral optic nerve atrophy without enhancement in T1-weighted imaging after contrast (Figure 2D).
PMC9291510_03
Accessory examinations of case 3. (A) Fundus photos showed temporal pallor in the right eye. (B) Nine cardinal eye positions showed impaired mobility in both eyes, including adduction, abduction, elevation, and depression. (C) OCT showed thinning of RNFL superiorly and inferiorly in the right eye, with diffuse thinning of GCIPL bilaterally. The RNFL thickness of the left eye was not available due to poor cooperation.
fmed-09-912103-g003.jpg
PMC9291510_03_fmed-09-912103-g003.jpg
F3
Funduscopic examination revealed temporal pallor of the optic disc in her right eye (Figure 3A). Eye movement was impaired in both eyes, including adduction, abduction, elevation, and depression (Figure 3B). The OCT demonstrated thinning of the RNFL superiorly and inferiorly in the right eye and diffuse bilateral thinning of GCIPL (Figure 3C).
PMC9291510_04
Accessory examinations of case 4. (A) Fundus photos showed normal optic disc and retina bilaterally. (B) Nine cardinal eye positions revealed adduction, elevation, and depression were moderately reduced bilaterally, and abduction was slightly reduced in the right eye and almost full in the left eye. (C) OCT showed normal retina thickness and macular structure bilaterally.
fmed-09-912103-g004.jpg
PMC9291510_04_fmed-09-912103-g004.jpg
F4
The fundoscopy revealed normal optic discs without retinopathy in both eyes (Figure 4A). Abduction was slightly reduced in the right eye and almost full in the left eye (Figure 4B). The OCT revealed normal retina thickness in both eyes (Figure 4C).