Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2025 May 27;16(1):461-467.
doi: 10.1159/000546420. eCollection 2025 Jan-Dec.

Coexistence of Congenital Aniridia and Ptosis in a Patient with Neurofibromatosis Type I: A Case Report

Maura Mancini  1 , Paola Palino  1 , Alessandro Calderone  1 , Giovanni W Oliverio  1 , Pasquale Aragona  1 , Alessandro Meduri  1
Affiliations
Case Reports

Coexistence of Congenital Aniridia and Ptosis in a Patient with Neurofibromatosis Type I: A Case Report

Maura Mancini et al. Case Rep Ophthalmol. .

Abstract

Introduction: Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene on chromosome 17q11.2. The main ocular manifestations include Lisch nodules, optic pathway gliomas, and plexiform neurofibromas, all of which can potentially impair visual function. Despite the numerous documented ocular manifestations of NF1, congenital aniridia has never been previously reported. Aniridia is a rare congenital disorder primarily associated with mutations in the PAX6 gene, leading to iris hypoplasia, corneal pannus, cataracts, and glaucoma. PAX6-negative aniridia has been described in some cases, suggesting alternative genetic mechanisms. Additionally, a minority of patients with aniridia exhibit ptosis. We present a unique case of a 50-year-old woman with NF1, exhibiting bilateral congenital aniridia and ptosis, without PAX6 mutations.

Case presentation: A 50-year-old woman diagnosed with NF1 presented with bilateral congenital ptosis and aniridia. Genetic analysis confirmed the presence of the NF1 c.4537C>T variant but was negative for PAX6 mutations. Ophthalmological examination revealed total aniridia, cataract, ptosis, and pendular nystagmus. The patient underwent levator muscle resection for ptosis correction and cataract extraction with implantation of an intraocular lens with an iris prosthesis. Histopathological analysis of the levator muscle showed atrophic changes in the absence of neurofibromatous infiltration.

Conclusion: This case represents the first documented instance of bilateral congenital aniridia in a patient with NF1. The absence of PAX6 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.

Keywords: Aniridia; Cataract surgery; Genetics; Neurofibromatosis; Ptosis.

PubMed Disclaimer

Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1.
Fig. 1.
Congenital bilateral ptosis.
Fig. 2.
Fig. 2.
Left eye: underwent cataract surgery with IOL implantation with iris prosthesis at another clinic.
Fig. 3.
Fig. 3.
Right eye: 2 weeks after cataract surgery and the implantation of a customized IOL with an iris prosthesis.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Tamura R. Current understanding of neurofibromatosis type 1, 2, and schwannomatosis. Int J Mol Sci. 2021;22(11):5850. - PMC - PubMed
    1. Kinori M, Hodgson N, Zeid JL. Ophthalmic manifestations in neurofibromatosis type 1. Surv Ophthalmol. 2018;63(4):518–33. - PubMed
    1. Mantelli F, Abdolrahimzadeh S, Mannino G, Lambiase A. Unusual case of angle closure glaucoma in a patient with neurofibromatosis type 1. Case Rep Ophthalmol. 2014;5(3):386–91. - PMC - PubMed
    1. Hoyt CS, Billson FA. Buphthalmos in neurofibromatosis: is it an expression of regional giantism? J Pediatr Ophthalmol. 1977;14(4):228–34. - PubMed
    1. Morales J, Chaudhry IA, Bosley TM. Glaucoma and globe enlargement associated with neurofibromatosis type 1. Ophthalmology. 2009;116(9):1725–30. - PubMed

Publication types