Ocular manifestations and treatment progress of Crouzon syndrome

Crouzon syndrome is a congenital genetic disease caused by mutations of the FGFR2 gene on chromosome 10. It isusually inherited in an autosomal dominant pattern and is one of the most common types of craniosynostosissyndromes. This article focuses on the ophthalmology-related aspects of Crouzon syndrome in order to help diagnoseand develop personalized treatment plans.

A combined systematic search of PubMed electronic database by using Boolean operators AND and OR wasconducted, 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 treatmentprogress 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 ofthese ocular abnormalities is related to orbital deformities. Most of the treatments are aimed at compensating theabnormal anatomic structure at present.