Ptosis, Visual Blurring, and Multiple Cranial Nerve Tumors: Do We Know the Culprit

Neurofibromatosis type 2 (NF2) is a monogenic condition caused by mutations in the NF2 gene. Examination of skin and eyes and parental screening play a key role in the diagnosis of pediatric NF2. We report a four-year-old boy, who presented sub-acutely with unilateral vision loss, ptosis and exotropia with a positive family history of NF2.