PMC5502322_01
Bilateral palpebral ptosis and motor limitation in all positions of gaze (Arrows indicate the position of gaze)
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Fig1
Asymmetric bilateral ptosis was found with generalized limitation of extraocular movements in OU with an exotropia in primary position of the gaze (Fig. 1), The cornea showed some none confluent guttae in OU and mild cataract both eyes.
Panoramic color pictures of Fundus showing salt and pepper pattern (The red arrows showed the bone spicules). a Right eye, b left eye
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Fig2
Fundus exam showed a normal optic nerve with atrophic and RPE changes with a salt and pepper appearance (Fig. 2).
Optical Coherence Tomography-Angiography (OCT-A) of both eyes. a Panoramic color picture of the posterior pole, and the thickness macular map of right and left eye respectively. b B-Scan on the foveal line that shows a disruption of the external layers and photoreceptors (The red arrow shows the site of the disruption) of right and left eye respectively. c OCT-A that shows a composite angiography (color image), angiography of the superficial (orange border) and deep layer (green border) of the right and left eye. Shows a normal vascular pattern in the choriocapillaries, superficial and deeper vascular plexus
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Fig3
OCT (Carl Zeiss Cirrus 4000 HD OCT) revealed areas of outer retinal layer atrophy in OU, predominantly temporal to the fovea, with a disruption of the ellipsoid zone in mottled pattern in OD, severe diffuse asymmetric macular thinning and areas of RPE hyperplasia without changes in choroid. OCT-A (DRI OCT-1 Triton Topcon Japan) showed a normal vascular pattern in the choriocapillaries, superficial and deeper vascular plexus (Fig. 3).
The HD SD OCT at 2 years' follow-up revealed a mild decrease of the thickness at macular level in both eyes. a Right eye, b left eye
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Fig4
SD OCT (Carl Zeiss Cirrus 4000 HD OCT) showed a mild decrease of the macular thickness (Fig. 4) and a decrease of the ganglion cell OU (Fig. 5a-c). Specular microscopy showed a decrease of endothelial cell density (OD: 1526 cel/mm2 and OS: 1779 cel/mm2) with mild polymegathism and pleomorphism (Fig. 6).
Anatomo Physiological correlation between OCT Cirrus 4000 scan, Neurological Visual Field and Multifocal Electroretinogram. a B-Scan of OCT Cirrus 4000 on foveal line of the right and left eye respectively (Red arrow shows the disruption of the photoreceptors). b Neurological visual field of both eyes (Red arrow shows the limit of the peripheral scotoma and mild macular respect). c Ganglion Cell Map of OCT Cirrus 4000 that shows a diffuse compromise of the ganglion cell with greater affection on the left eye. d Multifocal electroretinogram that shows a diffuse compromise with a mild macular respect in both eyes. (Red arrow shows the limit of the functional and dysfunctional retina at macular level)
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Fig5
The computerized visual field of OU showed a diffuse depression of retinal sensitivity in OU with peripheral predominance (Fig. 5b).
Specular microscopy shows the endothelial density with polymegathism and pleomorphism in both eyes
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Fig6
SD OCT (Carl Zeiss Cirrus 4000 HD OCT) showed a mild decrease of the macular thickness (Fig. 4) and a decrease of the ganglion cell OU (Fig. 5a-c). Specular microscopy showed a decrease of endothelial cell density (OD: 1526 cel/mm2 and OS: 1779 cel/mm2) with mild polymegathism and pleomorphism (Fig. 6).
Full field electroretinogram that evidenced a compromise of the rod and cones with a subnormal level in the scotopic response with a borderline photopic response
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Fig7
The electrophysiological studies evidenced a compromise of the rod and cones with a subnormal level in the scotopic response with a borderline photopic response in the full field electroretinogram (ERG) (Fig. 7) and multifocal ERG corroborated with the computerized visual field (Fig. 5d).