Quantified Retinal Morphology and Its Association With Papilledema and Visual Acuity in Syndromic and Complex Craniosynostosis: An Optical Coherence Tomography Study

PURPOSE: This study is the first to evaluate the prevalence of retinal thinning and the correlation with papilledema and visual acuity (VA) in a large population with craniosynostosis. DESIGN: Prospective clinical cohort study. METHODS: All and complex patients syndromic and complex with craniosynostosis who visited the only national referral center between 2018 and 2020 were included. Retinal layers were segmented using optical coherence tomography. Patients were seen by an ophthalmologist for VA assessment and fundoscopy. Multivariate regression models were developed to evaluate correlations between retinal thickness, papilledema and VA. RESULTS: We included 127 patients. Retinal thinning was most prevalent in the peripapillary retinal nerve fiber layer (≤38%). A longer duration of papilledema in early childhood correlated with an increased peripapillary retinal nerve fiber layer and total retinal thickness optic nerve head later in life (+0.3 ± 0.2, P = .04 and +1.0 ± 1.0, P = .003); however, its thickness was not correlated with the VA (P = .20 and P = .53). Macular retinal thinning was associated with a worse VA (P = .01); however, it was not correlated with the duration of papilledema (P = .95). CONCLUSIONS: Following a preventative treatment strategy for syndromic and complex craniosynostosis, the prevalence of retinal ONH thinning is low. Although the prevalence of peripapillary retinal nerve fiber layer thinning is considerable, its thickness is not correlated with VA. In contrast, macular thinning is correlated with worse VA scores and should, therefore, be evaluated during follow-up. Future studies should evaluate the (1) causative mechanism for macular thinning, (2) correlation between the time to surgery and macular thinning, and (3) results of reactive treatment strategies and compare those results to the current study.