ArticleAmerican journal of ophthalmology case reports2025
De novo neurofibromatosis type 2-related schwannomatosis in a child presenting with intraocular signs as initial manifestations.
Article in American journal of ophthalmology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: To report a rare pediatric case of neurofibromatosis type 2-related schwannomatosis (NF2-SWN) diagnosed based on ocular findings, with multimodal imaging and surgical follow-up, highlighting the importance of early ophthalmologic evaluation in NF2-SWN. Observations: An 8-year-old girl with no prior medical history was referred for bilateral pre-retinal lesions noted on routine eye exam. Best-corrected visual acuity was 20/40 in both eyes. Examination revealed bilateral posterior subcapsular and cortical lens opacities sparing the visual axis. Spectral-domain optical coherence tomography (OCT) demonstrated bilateral flame-shaped epiretinal membranes (ERMs), inner retinal thickening and disorganization suggestive of hamartomas, and retinal tufts. These findings raised suspicion for NF2-SWN, which was subsequently confirmed by magnetic resonance imaging (MRI) showing bilateral vestibular schwannomas, a peri-optic meningioma, and multiple spinal tumors. Genetic testing was deferred. Due to progression of tractional maculopathy in the right eye, the patient underwent pars plana vitrectomy with membrane peeling. Postoperative OCT showed resolution of traction and partial restoration of foveal architecture, with improvement in visual acuity to 20/30. Conclusions and importance: Ocular findings such as ERMs, retinal hamartomas, and juvenile cataracts can be early indicators of NF2-SWN, particularly in pediatric patients. This case underscores the value of comprehensive ophthalmologic examination and multimodal imaging in facilitating early diagnosis of NF2-SWN prior to the onset of systemic symptoms.
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