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.