Neuro-Ophthalmological Manifestations of Craniosynostosis: Current Perspectives

Abstract

Craniosynostosis, a premature fusion of cranial sutures that can be isolated or syndromic, is a congenital defect with a broad, multisystem clinical spectrum. The visual pathway is prone to derangements in patients with craniosynostosis, particularly in syndromic cases, and there is a risk for permanent vision loss when ocular disease complications are not identified and properly treated early in life. Extensive advancements have been made in our understanding of the etiologies underlying vision loss in craniosynostosis over the last 20 years. Children with craniosynostosis are susceptible to interruptions in visual input arising from strabismus, refractive errors, and corneal damage; any of these aberrations can result in understimulation of the visual cortex during childhood neurodevelopment and permanent amblyopia. Elevated intracranial pressure resulting from abnormal cranial shape or volume can lead to papilledema and, ultimately, optic atrophy and vision loss. A pediatric ophthalmologist is a crucial component of the multidisciplinary care team that should be involved in the care of craniosynostosis patients and consistent ophthalmologic follow-up can help minimize the risk to vision posed by such entities as papilledema and amblyopia. This article aims to review the current understanding of neuro-ophthalmological manifestations in craniosynostosis and explore diagnostic and management considerations for the ophthalmologist taking care of these patients.

Keywords: non-syndromic craniosynostosis; optic nerve atrophy; papilledema; pediatric ophthalmology; syndromic craniosynostosis.

Figure 1

(A–C) A child with sagittal craniosynostosis demonstrating scaphocephaly with a long, narrow skull and increased AP (anterior-posterior) skull length. (D and E) A child with unicoronal craniosynostosis with notable anterior plagiocephaly. (F and G) A child with bicoronal craniosynostosis demonstrating brachycephaly with broad forehead and reduced AP skull length. (H–J) A child with metopic craniosynostosis demonstrating trigonocephaly or triangular skull shape and a prominent, vertical forehead ridge.

Figure 2

A 2-year-old child with syndromic craniosynostosis demonstrating “excylotorsional syndrome” in the (A) primary gaze and with (B) V-pattern exotropia that is prominent in upgaze.

Figure 3

A 12-month-old with Crouzon syndrome who presented (A and B) with bilateral optic nerve edema (papilledema) and subsequent resolution of papilledema (C and D) with posterior cranial vault distraction followed by staged fronto-orbital advancement. Note: Reproduced from LoPresti M, Buchanan E, Shah V, Hadley C, Monson L, Lam S. Complete resolution of papilledema in syndromic craniosynostosis with posterior cranial vault distraction. Journal of Pediatric Neurosciences. 2017;12(2):199.