5-year-old boy was diagnosed with neurofibromatosis type 1 (NF1) eight months after birth. He has displayed café-au-lait spots, axillary freckling, macrocephaly, sphenoid dysplasia, brain hamartomas, right temporal arachnoid cyst, and optic glioma. Visual evoked potentials showed evidence of bilateral functional deficit.
Child with progressive exotropia secondary to the profound vision loss that appears to be to an optic neuropathy. The expert recommends to obtain additional studies in order to exclude potential diagnosis such as glioma, pathological disc edema, optic nerve drusen or dominant optic atrophy OPA-1 gene related.
5-year-old boy with diagnosis of neurofibromatosis type 1 underwent ophthalmological evaluation that showed reduction in visual acuity and reduction of the bilateral visual field. MRI showed presence of a big expansive lesion and of temporopolar arachnoid cyst. The treating doctors recommended an urgent surgery in order to reduce the cerebral hypertension. In the expert's opinion, after having seen the images, the arachnoid cyst has not changed that much, and probably has little impact or effect, and therefore meanwhile no surgery is warranted.
5-year-old boy with diagnosis of neurofibromatosis type 1 underwent ophthalmological evaluation that showed picture of slight reduction in visual acuity of the right eye and severe hypovision of the left eye with slight reduction of the bilateral visual field. MRI showed presence of a big expansive lesion and of right temporopolar arachnoid cyst. The treating doctors recommended an urgent surgery in order to reduce the cerebral hypertension.