目的:克鲁松综合征是一种由10号染色体FGFR2基因突变引起的先天性遗传性疾病。它通常以常染色体显性遗传,是最常见的颅骨融合综合征之一。本文重点介绍克鲁松综合征的眼科相关方面,以帮助诊断和制定个性化治疗方案。
方法: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\",“颅骨融合症”,\"eye\",\"oculus\",“眼”,“眼科”,“眼科”,“眼科”,\"地球仪\",\"轨道\",“眼球突出”,\"驱魔\",“角膜病变”,“视觉”等。在对这些文章进行初步筛选后,重复文献被排除。
结果:选择了47篇文章。本文介绍了眼部表现,克鲁松综合征可能的发病机制及治疗进展。
结论:克鲁宗综合征的眼部异常发生率很高,比如浅轨道,眼球突出,超端粒,暴露性角膜病变,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弥补异常的解剖结构。
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 47 articles were selected. This article introduces the ocular manifestations, possible pathogenesis and treatment progress in Crouzon syndrome.
CONCLUSIONS: 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.