Ophthalmic features of craniosynostosis: A Malaysian experience

Abstract

Background: This study aims to collect local Malaysian data regarding the ophthalmic features and complications in craniosynostosis patients who attended the Combined Craniofacial Clinic (CFC) in University Malaya Medical Centre (UMMC). Methods: Retrospective study of medical notes of craniosynostosis patients who attended the CFC in UMMC from 2014 to December 2020. Results: Out of 37 patients, 29 had syndromic craniosynostosis, and 8 had non-syndromic craniosynostosis. Visual impairment was present in 32.1% of patients. Causes for visual impairment were as follows – amblyopia (25.0%), exposure keratopathy (3.6%), and optic atrophy (3.6%). Hypermetropia and myopia were each seen in 20.6% of patients. Astigmatism was seen in 47.1% of patients, and 29.1% had anisometropia. Proptosis was present in 78.6% and lagophthalmos in 53.3% of patients. Strabismus in primary position occurred in 51.7% of patients. Thirty-one percent of the patients had exposure keratopathy. Optic disc atrophy was seen in 13.7% of patients, and 8.3% had optic disc swelling. Optic disc swelling was resolved in all patients who underwent craniofacial surgery. Conclusion: Our experience in Malaysia was consistent with previously reported data on ophthalmic features of craniosynostosis patients. Additionally, we found that non-syndromic craniosynostosis patients are also at risk of ocular complications just as much as syndromic patients. Appropriate treatment of amblyogenic risk factors, ocular complications, and timely detection of papilledema, and prompt surgical intervention are crucial in preserving long-term visual function in these patients.

Crouzon syndrome and the eye: An overview

“…A recent study from Malaysia reported vision impairment in 32.1% of craniosynostosis patients, which is much higher than the normal population. [ 2 ] The most commonly reported causes in this study were amblyopia (25.0%), exposure keratopathy (3.6%), and optic atrophy (3.6%). The strongest risk factors for amblyopia were noted to be refractive errors and anisometropia.…”

“…[ 6 ] (18%) was similar in children with craniosynostosis, while Rafique et al . [ 2 ] noted even higher numbers (29.4%). The prevalence of astigmatism was comparable in all three studies (40% by Khan et al .…”

“…[ 6 ] noted hypermetropia in 18.4% of patients and myopia in 2.6%, while Rafique et al . [ 2 ] observed hypermetropia in 20.6% and myopia in another 20.6%. The prevalence of anisometropia noted by Khan et al .…”

“…[ 19 ] and Tay et al ,[ 6 ] and 47.1% by Rafique et al . [ 2 ]). Refractive errors in these patients were attributable to many factors that included distorted corneal topography secondary to exposure keratopathy, ptosis, and unusual orbital shapes.…”

“…Non-syndromic craniosynostoses are not associated with other body dysmorphisms and usually affect only one suture of the skull, while syndromic craniosynostoses are known to affect multiple skull sutures and are associated with craniofacial dysmorphisms, abnormalities of extremities, and other bony anomalies. [ 2 ] Over 150 syndromic craniosynostoses have been recognized in literature, the most common of which are Crouzon syndrome, Apert syndrome, Pfeiffer syndrome and Saethre–Chotzen syndrome, all being autosomal dominant. [ 3 ]…”