Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel <i>NF2</i> mutation
This case underscores the need to consider <i>NF2</i>- SWN in peripapillary hamartoma diagnoses and highlights the importance of genetic testing for early detection and management.
Authors
- Karim Sleiman (ORCID: https://orcid.org/0000-0002-4017-4908)
- Dany Akiki (ORCID: https://orcid.org/0000-0001-8365-5958)
- André Mégarbané (ORCID: https://orcid.org/0000-0003-0714-2469)
- Jamal Bleik (ORCID: https://orcid.org/0000-0002-6012-9055)
- Salah Allam
Institutions
- Tufts University (US)
- Tufts Medical Center (US)
- International Data Group (United States) (US)
- Fondation Jérôme-Lejeune (FR)
- Lebanese American University (LB)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-10-28
- DOI
- https://doi.org/10.1080/13816810.2024.2422087
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00