Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Aug 1;150(2):381e-386e.
doi: 10.1097/PRS.0000000000009367. Epub 2022 Jun 8.

Optic Nerve Atrophy in Syndromic Craniosynostosis

Jeffrey A Fearon  1 , Stephan Barrientos  1 , Kanlaya Ditthakasem  1 , Morley Herbert  1
Affiliations
Review

Optic Nerve Atrophy in Syndromic Craniosynostosis

Jeffrey A Fearon et al. Plast Reconstr Surg. .

Abstract

Background: Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive factors.

Methods: The authors conducted a retrospective chart review of all children with syndromic craniosynostosis treated at a single center.

Results: Of 442 patients with syndromic craniosynostosis, complete ophthalmologic records were available for 253. Although no instances of optic nerve atrophy were noted among those with Saethre-Chotzen or Muenke syndromes, an overall 14.7 percent prevalence was noted among those with Apert (7.8 percent), Crouzon (27.9 percent), and Pfeiffer syndromes (23.1 percent), with initial diagnoses occurring at a mean age of 10 years. The presence of a Chiari malformation was found to significantly correlate with the subsequent diagnosis of optic nerve atrophy (OR, 3.544; p = 0.002); however, the timing of the first cranial vault procedure, presence of a ventriculoperitoneal shunt, degree of brachycephaly, number of vault expansions, and diagnosis of sleep apnea, did not show significant associations.

Conclusions: A substantial percentage of children with Apert, Crouzon, and Pfeiffer syndromes were found to develop optic nerve atrophy, with a prevalence likely to trend higher with longer follow-up. Chiari malformations were the only significant potential predictor for optic nerve atrophy. With the goal of preventing visual losses, more frequent monitoring for raised intracranial pressure with ophthalmologic evaluations and magnetic resonance imaging measurements of optic nerve sheath diameters should be considered.

Clinical question/level of evidence: Risk, III.

PubMed Disclaimer

References

    1. Khan SH, Nischal KK, Dean F, Hayward RD, Walker J. Visual outcomes and amblyogenic risk factors in craniosynostotic syndromes: A review of 141 cases. Br J Ophthalmol. 2003;87:999–1003.
    1. Hertle RW, Quinn GE, Minguini N, Katowitz JA. Visual loss in patients with craniofacial synostosis. J Pediatr Ophthalmol Strabismus. 1991;28:344–349.
    1. Bartels MC, Vaandrager JM, de Jong TH, Simonsz HJ. Visual loss in syndromic craniosynostosis with papilledema but without other symptoms of intracranial hypertension. J Craniofac Surg. 2004;15:1019–1022; discussion 1023–1024.
    1. Bonfield CM, Tamber MS, Losee JE. Blindness from late presenting undiagnosed pancraniosynostosis mimicking pseudotumor cerebri. J Child Neurol. 2014;29:NP24–NP27.
    1. Rogers GF, Greene AK, Proctor MR, Mulliken JB, Goobie SM, Stoler JM. Progressive postnatal pansynostosis. Cleft Palate Craniofac J. 2015;52:751–757.