Neurofibromatosis Type-2 presenting with vision impairment

Abstract

Neurofibromatosis Type-2 (NF2) is an autosomal dominant genetic tumour-predisposing condition caused by mutations in the NF2 gene located on chromosome 22q12. It is characterized by multiple benign tumours of the central and peripheral nervous systems and meninges, causing high morbidity. Herein, presentation of a rare case of NF2 in a 36-year-old female who presented with right eye visual disturbances, followed by tinnitus with hearing impairment. The visual disturbance developed into blindness. Magnetic resonance imaging (MRI) was performed, which showed a right-side cerebellopontine angle vestibular schwannoma and multiple meningiomas around the brain. According to the MRI findings, the patient was diagnosed with NF2. This case report aims to elucidate the importance of early brain imaging in any visual disturbances in young adults and to highlight the key role of medical imaging in the diagnosis of rare cases. Moreover, this describe the MRI features and the diagnostic accuracy for the tumours occurring in NF2 in detail. doi: https://doi.org/10.12669/pjms.39.2.6813 How to cite this: Alshoabi SA. Neurofibromatosis Type-2 presenting with vision impairment. Pak J Med Sci. 2023;39(2):---------. doi: https://doi.org/10.12669/pjms.39.2.6813 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.