PMC5066292_01
Typical facial appearance of twelve-year-old female patient with osteogenesis imperfecta
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Fig1
Snellen scale at a distance of 6 m. She had growth retardation and typical facial appearance compatible with OI, such as triangular shaped face, large skull, a prominent nose, elongated columella of the nose, smaller maxilla, slightly larger mandible (Fig. 1).
a The picture shows stage 2 papilledema and wrinkles in the papillomacular area during her fundus examination. b In her fundus examination after 5 months, the picture shows the bilateral optic discs pallidness and the distinct thinnings in her both retinal nerve fibre layers
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Fig2
In her fundus examination, bilateral stage 2 papilledema according to Frisen Scale and wrinkles in papillomacular bundle were noticed (Fig. 2a). Bilateral optic discs were pallor (Fig. 2b). RNFL analyses of both her eyes still revealed distinct thinning (Fig. 2b).
In her initial retinal nerve layer analysis, there seemed to be a thickening of both retinal nerve fibre layers due to bilateral papilledema. (a Right, b Left)
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Fig3
Ishihara plates were normal. Initially, optical coherence tomography (OCT) images revealed the macular pucker and thickening in the retinal nerve fibre layer (RNFL) of both her eyes (Fig. 3a, b) but after 5 months when the papilledema subsided, the distinct thinning in both RNFL was obvious (Fig. 2b).
These axial tomography photographs show an ossification in the optic chiasma (a) and occlusion in all periorbital sinus areas (b)
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Fig4
In addition to extreme hypoplazic appearance in the sphenoid sinus, the other periorbital sinuses were not monitored in CT images due to their abnormal ossification (Fig. 4a, b).
a, b Bitemporal partial hemianopia is seen in her Humphrey visual field examination. Enlarged blind spot in the papilledema period is remarkable. a Bitemporal partial hemianopia and enlarged blind spots in papilledema period of right and left eyes. (R: Right, L: Left). b After 5 months, while enlarged blind spots were improved along with decrease in papilledema, bitemporal partial hemianopia became more obvious. (R: Right, L: Left)
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Fig5
In her visual field examination using the Humphrey field analyser, we noted remarkable enlarged blind spot and bitemporal partial hemianopia (Fig. 5a). In her visual field examination, despite the improvement in the enlarged blind spot, bitemporal partial hemianopia was still remarkable (Fig. 5b).