Neurofibromatosis type 2 (NF2) is a monogenic condition caused by mutations in the 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.
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| http://dx.doi.org/10.1007/s12070-021-02599-5 | DOI Listing |
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