Advances in research on Crouzon syndrome and related ophthalmic complications

Crouzon 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).