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

INTRODUCTION

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the 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 gene, leading to iris hypoplasia, corneal pannus, cataracts, and glaucoma. -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 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 c.4537C>T variant but was negative for 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 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.