Eye School of Chengdu, University of Traditional Chinese Medicine, Chengdu, Sichuan Province, China.
Department of Ophthalmology, Chengdu First People's Hospital/Chengdu Integrated TCM and Western Medicine Hospital, No.18 Wanxiang North Road, Chengdu, 610041, Sichuan Province, China.
Int Ophthalmol. 2024 Sep 5;44(1):367. doi: 10.1007/s10792-024-03293-5.
Crouzon syndrome is a congenital genetic disease caused by mutations of the FGFR2 gene on chromosome 10. It is usually inherited in an autosomal dominant pattern and is one of the most common types of craniosynostosis syndromes. This article focuses on the ophthalmology-related aspects of Crouzon syndrome in order to help diagnose and develop personalized treatment plans.
A combined systematic search of PubMed electronic database by using Boolean operators AND and OR was conducted, choosing the following keywords: "Crouzon", "craniosynostosis", " eye ", " oculus ", " ocular ", " ophthalmic ", " ophthalmologic ", " ophthalmology ", " globe ", " orbit ", " exophthalmos ", " exorbitism ", " keratopathy ", " visual " etc. After the initial screening of these articles, repetitive literatures were excluded.
47 articles were selected. This article introduces the ocular manifestations, possible pathogenesis and treatment progress in Crouzon syndrome.
The incidence of ocular abnormalities in Crouzon syndrome is very high, such as shallow orbits, exophthalmos, hypertelorism, exposure keratopathy, strabismus, optic neuropathy, ametropia, glaucoma, etc. The pathogenesis of these ocular abnormalities is related to orbital deformities. Most of the treatments are aimed at compensating the abnormal anatomic structure at present.
Crouzon 综合征是一种由 10 号染色体上 FGFR2 基因突变引起的先天性遗传疾病。它通常以常染色体显性遗传方式遗传，是最常见的颅缝早闭综合征之一。本文重点介绍 Crouzon 综合征与眼科相关的方面，以帮助诊断和制定个性化的治疗计划。
通过使用布尔运算符 AND 和 OR 对 PubMed 电子数据库进行组合系统搜索，选择以下关键字：“Crouzon”、“颅缝早闭”、“眼”、“oculus”、“ocular”、“ophthalmic”、“ophthalmologic”、“ophthalmology”、“globe”、“orbit”、“exophthalmos”、“exorbitism”、“keratopathy”、“visual”等。对这些文章进行初步筛选后，排除重复文献。
选择了 47 篇文章。本文介绍了 Crouzon 综合征的眼部表现、可能的发病机制和治疗进展。
Crouzon 综合征眼部异常的发生率非常高，如眼眶浅、眼球突出、眼球距过宽、暴露性角膜炎、斜视、视神经病变、屈光不正、青光眼等。这些眼部异常的发病机制与眼眶畸形有关。目前大多数治疗方法都旨在补偿异常的解剖结构。
