Coexistence of Congenital Aniridia and Ptosis in a Patient with Neurofibromatosis Type I: A Case Report
This case represents the first documented instance of bilateral congenital aniridia in a patient with NF1. The absence of <i>PAX6</i> mutations suggests an alternative genetic mechanism or a novel NF1 phenotype. This highlights the importance of thorough ophthalmologic and genetic evaluation in NF1 patients, integrating a multidisciplinary approach to identify atypical phenotypic associations and ensure optimal management.
Authors
- Maura Mancini (ORCID: https://orcid.org/0009-0009-2615-436X)
- Giovanni William Oliverio (ORCID: https://orcid.org/0000-0003-3127-9756)
- Pasquale Aragona (ORCID: https://orcid.org/0000-0002-9582-9799)
- Alessandro Meduri (ORCID: https://orcid.org/0000-0001-7546-9178)
- Alessandro Calderone
- Paola Palino (ORCID: https://orcid.org/0009-0008-8580-0176)
Institutions
- University of Messina (IT)
Publication Details
- Journal
- Case Reports in Ophthalmology
- Published
- 2025-05-27
- DOI
- https://doi.org/10.1159/000546420
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00