摘要Crouzon综合征是一种常染色体显性遗传性疾病,主要表现为头颅畸形(舟状头或三角头畸形),面部畸形(鹦鹉嘴样鼻、下颌前突),双眼突眼及斜视。Crouzon 综合征主要由成纤维细胞生长因子受体2基因突变所致。颅底甚至部分颅骨穹窿的骨缝过早的闭合为Crouzon综合征发病的始动因素。本文从Crouzon综合征患者发病机制、眼科相关病变的发生、行颅面外科手术后可能的眼科并发症表现及发生机制、治疗方面的进展进行综述,旨在增加眼科医师对该病的了解。早期颅眶外科手术有利于防止视神经萎缩和暴露性角膜炎引起的视力损害。对就诊于眼科的患者早期应行验光和眼球运动检查,防止屈光不正和斜视导致的弱视发生,及时进行斜视矫正手术治疗。 (中华眼科杂志,2020,56:544-548)
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abstractsCrouzon syndrome is an autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. It is usually caused by a pathogenic mutation in the fibroblast growth factor receptor 2 gene and premature fusion of the sutures of the cranium and the base of the skull. This article documents the ophthalmic complications in patients with Crouzon syndrome before and after the influence of craniofacial surgery with particular emphasis on the different mechanisms and treatments involved. It is important to perform timely decompressive surgery before the presence of optic atrophy and corneal defects, and make early detection and adequate management of amblyopia, ptosis and strabismus. (Chin J Ophthalmol, 2020, 56: 544-548)
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