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Fig. 4 | BMC Pediatrics

Fig. 4

From: Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC

Fig. 4

Ocular clinical manifestations caused by TSC1 gene mutation. (A, B) The MRI scan during the T2 phase showed thickening bilateral optic nerves (black arrows) and high signal intensity in the ependyma (red arrow). (C, D) The pupil of the child with TSC1 gene mutation was dilated and fixed without light reflection. (E) Fundus photography revealed pale optic discs with blurred edges in the right eye before the neurosurgery operation. (F) Postoperative fundus images showed that the patient’s optic disc edema improved, but the color of the optic disc was still pale. (G, H) OCT showed structural disorganization in the outer photoreceptor segment in both eyes. In G, foveal deformation and suspected hamartoma can be detected (yellow arrow)

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BMC Pediatrics

ISSN: 1471-2431

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