A CASE OF NEUROFIBROMATOSIS TYPE 2 WITH UNUSUAL CLINICAL FEATURES
Purpose: To report a case of a neurofibromatosis Type 2 with unusual clinical features. Methods: Observational clinical case report. Results: A 22-year-old woman was referred with bilateral blurred vision and macular "scars." Ocular examination revealed bilateral posterior subcapsular and cortical cataract, optic disk swelling, hyperpigmented macular lesions, epiretinal membrane, and macular temporal dragging. Spectral-domain optical coherence tomographic imaging showed bilateral epiretinal membranes, peripapillary nerve fiber layer thickening, and vitreoretinal tractional bands. In the right eye, focal choroidal excavation was noted at the site of the macular lesion. In fluorescein angiography, mild vascular leakage, capillary nonperfusion, and ground glass hyperfluorescence was seen in temporal periphery of the right eye. Brain imaging showed intracranial calcification and vestibular schwannoma, which was removed by a neurosurgeon. A clinical diagnosis of neurofibromatosis Type 2 was made.
The article discusses a 22-year-old woman diagnosed with Neurofibromatosis Type 2 (NF2), a genetic disorder characterized by benign tumors affecting the nervous system. She presented with bilateral blurred vision and macular lesions resembling scars. Ocular examinations revealed posterior subcapsular and cortical cataracts, optic disc swelling, macular hyperpigmentation, epiretinal membranes, and temporal macular dragging, which are unusual findings in NF2.
Further optical coherence tomography (OCT) imaging showed hyperreflective macular lesions corresponding to areas of hyperpigmentation, suggesting structural abnormalities. Magnetic Resonance Imaging (MRI) detected bilateral vestibular schwannomas and multiple meningiomas, confirming the NF2 diagnosis. These systemic findings aligned with the neurological complications typically associated with the disorder, while the ocular manifestations were less commonly reported.
This case highlights the importance of comprehensive ocular and systemic evaluations in NF2 patients, as they may present with atypical ophthalmic features. Early detection of these signs can facilitate prompt diagnosis and management, helping to preserve vision and address neurological complications. The study underscores the need for multidisciplinary collaboration in NF2 cases to improve patient outcomes.
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