Article
Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation.
Ophthalmic genetics - 1 Feb 2025
Sleiman Karim, Allam Souha, Akiki Dany, Megarbane Andre, Bleik Jamal
Abstract excerpt
BACKGROUND: Neurofibromatosis type-2-related schwannomatosis (NF2-SWN, formerly neurofibromatosis type 2) is a rare genetic disorder marked by the development of multiple nervous system tumors. CASE PRESENTATION: We report a 21-month-old female patient who presented for left eye deviation. Upon examination, intermittent exotropia and a fundus mass were detected. Wide field fundus examination revealed the presence...
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