De novo neurofibromatosis type 2-related schwannomatosis in a child presenting with intraocular signs as initial manifestations

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.

Authors

Jacques Bijon (ORCID: https://orcid.org/0000-0002-1679-5026)
G. Caputo (ORCID: https://orcid.org/0000-0001-6810-7910)
Florence Metge (ORCID: https://orcid.org/0009-0004-5258-2038)
Aliénor Vienne-Jumeau (ORCID: https://orcid.org/0000-0003-3506-7814)
Sacha Waintraub

Institutions

Inserm (FR)
Centre hospitalier national d'ophtalmologie des Quinze-Vingts (FR)
Fondation Ophtalmologique Adolphe de Rothschild (FR)

Publication Details

Journal: American Journal of Ophthalmology Case Reports
Published: 2025-10-04
DOI: https://doi.org/10.1016/j.ajoc.2025.102447
Primary Topic: Neurofibromatosis and Schwannoma Cases
Type: article
Field-Weighted Citation Impact: 0.00

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article

De novo neurofibromatosis type 2-related schwannomatosis in a child presenting with intraocular signs as initial manifestations

Jacques Bijon, G. Caputo, Florence Metge, Aliénor Vienne-Jumeau et al.

Oct 4, 2025

American Journal of Ophthalmology Case Reports

Neurofibromatosis and Schwannoma Cases

article

De novo neurofibromatosis type 2-related schwannomatosis in a child presenting with intraocular signs as initial manifestations

Jacques Bijon, G. Caputo, Florence Metge, Aliénor Vienne-Jumeau, Sacha Waintraub

October 4, 2025article en

Abstract

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.

American Journal of Ophthalmology Case ReportsVol. 40

Inserm (FR), Centre hospitalier national d'ophtalmologie des Quinze-Vingts (FR), Fondation Ophtalmologique Adolphe de Rothschild (FR)

Openalex Percentile: Top 60%

Neurofibromatosis and Schwannoma Cases

DOI Open Access PDF OpenAlex

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De novo neurofibromatosis type 2-related schwannomatosis in a child presenting with intraocular signs as initial manifestations — Jacques Bijon, G. Caputo, et al. · American Journal of Ophthalmology Case Reports (2025) | TGRS Research Map | TGRS