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

IF 0.5 Q4 OPHTHALMOLOGY
Case Reports in Ophthalmology Pub Date : 2025-05-27 eCollection Date: 2025-01-01 DOI:10.1159/000546420
Maura Mancini, Paola Palino, Alessandro Calderone, Giovanni W Oliverio, Pasquale Aragona, Alessandro Meduri
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引用次数: 0

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.

1型神经纤维瘤病并发先天性无虹膜和上睑下垂1例。
1型神经纤维瘤病(NF1)是由染色体17q11.2上NF1基因突变引起的一种遗传性疾病。主要的眼部表现包括Lisch结节,视神经胶质瘤和丛状神经纤维瘤,所有这些都可能损害视觉功能。尽管有许多文献记载的NF1的眼部表现,先天性无虹膜以前从未报道过。无虹膜是一种罕见的先天性疾病,主要与PAX6基因突变有关,可导致虹膜发育不全、角膜泛膜、白内障和青光眼。pax6阴性无虹膜已在一些病例中被描述,提示其他遗传机制。此外,少数无虹膜患者表现为上睑下垂。我们提出一个独特的情况下,一个50岁的女性NF1,表现出双侧先天性无虹膜和上睑下垂,没有PAX6突变。病例介绍:一名确诊为NF1的50岁女性,表现为双侧先天性上睑下垂和无虹膜。遗传分析证实存在NF1 c.4537C>T变异,但PAX6突变呈阴性。眼科检查发现全无虹膜、白内障、上睑下垂和钟摆性眼球震颤。病人接受提上睑肌切除术矫正上睑下垂及白内障摘出及人工晶状体植入。组织病理分析显示提肌萎缩改变,没有神经纤维瘤浸润。结论:本病例是第一例NF1患者双侧先天性无虹膜的病例。PAX6突变的缺失提示了另一种遗传机制或一种新的NF1表型。这突出了对NF1患者进行全面眼科和遗传学评估的重要性,整合多学科方法来识别非典型表型关联并确保最佳管理。
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来源期刊
CiteScore
0.90
自引率
0.00%
发文量
129
审稿时长
12 weeks
期刊介绍: This peer-reviewed online-only journal publishes original case reports covering the entire spectrum of ophthalmology, including prevention, diagnosis, treatment, toxicities of therapy, supportive care, quality-of-life, and survivorship issues. The submission of negative results is strongly encouraged. The journal will also accept case reports dealing with the use of novel technologies, both in the arena of diagnosis and treatment. Supplementary material is welcomed. The intent of the journal is to provide clinicians and researchers with a tool to disseminate their personal experiences to a wider public as well as to review interesting cases encountered by colleagues all over the world. Universally used terms can be searched across the entire growing collection of case reports, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.
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