Crouzon syndrome and the eye: An overview

Abstract

The current literature review aims to evaluate the ocular findings and associated ophthalmic features in Crouzon syndrome. Craniosynostoses are syndromes characterized by premature fusion of sutures of the skull and Crouzon syndrome is the most common of the craniosynostosis syndromes. Early fusion of sutures results in craniofacial anomalies, including abnormalities of the orbits. To prepare this review of the ophthalmic findings in this disorder, an organized search on online databases such as PubMed, Scopus, Cochrane Library, and Ovid was carried out. The key terms searched were "Crouzon", "craniosynostosis", "eye" and "ophthalmic", and 51 research items were found. A total of 17 articles were included after scrutiny of the databases and a further 25 articles were added after augmented search. A detailed review was performed from the final 42 articles. A comprehensive description of associated anomalies is given along with the author's own technique of surgical management in cases with Crouzon syndrome having bilateral luxation bulbi with exposure keratopathy. However, for optimum management of cranial and oculo-facial dysmorphisms, a multidisciplinary team of specialists is required.

Keywords: Craniofacial dysmorphism; Crouzon; craniosynostosis; exorbitism.

Figure 1

(a) Sutures in a normal skull of a newborn; (b) Skull anomalies in craniosynostosis

Figure 2

(a) A normal skull; (b) Increased antero-posterior diameter of skull, maxillary hypoplasia, and shallow orbits in Crouzon syndrome (CS)

Figure 3

Three-dimensional CT reconstruction of a skull in a patient with CS

Figure 4

Selection process of articles for the study

Figure 5

Non-contrast CT scan in sagittal section showing regressed orbital walls, shallow orbit, and luxation bulbi

Figure 6

Globe subluxation on the right side in a patient with CS, post minor trauma with finger

Figure 7

(a) Anterior maxilla being cut along a pre-marked delineation line; (b) Antero-superior rotation of the bone segment; (c) Fixation of the bone segment with plates and screws; (d) Digital reconstruction of the final outcome

Figure 8

(a) Preoperative 3D reconstructed CT scan in anterior view with shallow orbits; (b) Postoperative 3D CT scan image in anterior view with an increased orbital volume. White arrows point to the augmented space created around the orbital roof, and yellow arrows point to the titanium plates and screws; (c) Preoperative 3D CT scan in lateral view showing shallow orbit and maxillary hypoplasia; (d) Postoperative 3D CT scan in lateral view with enhanced orbital volume. White arrow shows the superior burr site, and yellow arrow shows the antero-superiorly rotated inferior orbital rim fixed with titanium plates and screws

Figure 9

(a) Preoperative picture of a patient with extreme exorbitism in downgaze;(b) Postoperative outcome of the same patient at six-month follow-up visit, now having no exorbitism in downgaze

Figure 10

(a) Canthal dystopia and ptosis in a 15-year-old patient; (b) Anatomical outcome post canthoplasty and bilateral levator surgery