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

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-ol

SUBMITTER: Mancini M 

PROVIDER: S-EPMC12185060 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature