ABSTRACT

Purpose

The purpose of this review is to provide an update on ophthalmological manifestations of Noonan Syndrome (NS). Emerging evidence has suggested that NS patients may present with a wide spectrum of ocular characteristics. Detailed investigation of genotype has revealed the diversity of related gene mutations. The potential association of genetic basis with clinical expressivity of phenotype remains a challenging aspect of this issue.

Methods

A literature search was performed in PubMed; we have analyzed prospective and retrospective cohort studies, case reports, and reference lists of retrieved articles until February 2021. We identified all papers referring to NS ocular manifestations referring to genotype and phenotype characteristics.

Results

A comprehensive update on ocular manifestations of NS patients indicates significant evidence for variability of genotype and phenotype features. Ophthalmologic features of NS are characterized by a wide spectrum of abnormalities; external ocular malformations, distortions of refraction, alignment, motilily, anterior and posterior ocular segment and visual impairment. Currently, a variety of pathogenic mutations in patients with NS have been investigated, while the nature of the genetic variants may determine expressivity. Albeit it remains a clinical diagnosis with variation in the progress of each NS phenotype. Although the available evidence that is needed to establish genotype-phenotype correlation as predicting factor in clinical practice is limited, it could aid risk assessment and patient management.

Conclusion

A review of the existing literature sheds light on the ocular characteristics of NS. The current article discusses notable aspects of key publications on the topic, highlights the importance of the potential genotype-phenotype correlation in clinical practice, and proposes the need for further future research.

中文翻译：

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Noonan 综合征眼部表现的叙述回顾

摘要

目的

本综述的目的是提供有关 Noonan 综合征 (NS) 眼科表现的最新信息。新出现的证据表明，NS 患者可能具有广泛的眼部特征。对基因型的详细调查揭示了相关基因突变的多样性。遗传基础与表型临床表现的潜在关联仍然是该问题的一个具有挑战性的方面。

方法

在 PubMed 中进行了文献检索；我们分析了截至 2021 年 2 月的前瞻性和回顾性队列研究、病例报告和检索文章的参考列表。我们确定了所有涉及基因型和表型特征的 NS 眼部表现的论文。

结果

对 NS 患者眼部表现的全面更新表明了基因型和表型特征变异性的重要证据。NS的眼科特征以广泛的异常为特征；外眼畸形、屈光变形、排列、运动性、前后眼节和视力障碍。目前，已经研究了 NS 患者的多种致病性突变，而遗传变异的性质可能决定表达性。尽管它仍然是一个临床诊断，每个 NS 表型的进展都存在差异。尽管在临床实践中建立基因型-表型相关性作为预测因素所需的可用证据有限，但它可以帮助风险评估和患者管理。

结论

对现有文献的回顾揭示了 NS 的眼部特征。目前的文章讨论了有关该主题的关键出版物的显着方面，强调了潜在的基因型-表型相关性在临床实践中的重要性，并提出了进一步研究的必要性。