Optic nerve head morphological variation in craniosynostosis: a cohort study

Sohaib R Rufai; Mervyn G Thomas; Oliver R Marmoy; Vasiliki Panteli; Dorothy A Thompson; Catey Bunce; Robert H Henderson; Sri Gore; Greg James; Irene Gottlob; David J Dunaway; Richard Hayward; Frank A Proudlock; Noor Ul Owase Jeelani; Richard Bowman

doi:10.1016/j.ajo.2024.08.021

Optic nerve head morphological variation in craniosynostosis: a cohort study

Am J Ophthalmol. 2024 Aug 27:S0002-9394(24)00382-9. doi: 10.1016/j.ajo.2024.08.021. Online ahead of print.

Authors

Affiliations

¹ Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Craniofacial Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health, London, United Kingdom; The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom. Electronic address: Sohaib.Rufai@nhs.net.
² The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom.
³ Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
⁴ Clinical Trials Unit, The Royal Marsden NHS Trust, London, United Kingdom.
⁵ Craniofacial Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

PMID: 39209208
DOI: 10.1016/j.ajo.2024.08.021

Abstract

Objective: To evaluate optic nerve head morphology in children with craniosynostosis versus healthy controls.

Design: Single-centre, prospective cohort study METHODS: Handheld optical coherence tomography (OCT) was performed in 110 eyes of 58 children (aged 0-13 years) with craniosynostosis. Inclusion criteria were as follows: normal intracranial pressure (ICP) on invasive overnight monitoring, or clinically stable ICP. The latter was defined as stable VA within 1 logMAR line and no papilloedema on fundoscopy for at least four months following OCT, and normal/stable visual evoked potentials. Control data for 218 eyes of 218 children were obtained from a published normative dataset. The main outcome measures were disc width, cup width, rim width and retinal nerve fibre layer (RNFL) thickness (nasal and temporal). Outcome measures were compared using three-way linear mixed model regression analysis (FGFR 1/2-associated craniosynostosis, non-FGFR 1/2-associated craniosynostosis, and controls).

Results: Out of 63 eligible children with craniosynostosis, handheld OCT imaging was successful in 110 eyes of 58 children (92%). Of these, 22 (38%) were female. Median subject age at OCT examination was 53 months (range: 2 to 157; IQR: 39 to 73). Twelve children (21%) had FGFR1/2-associated syndromes (Crouzon, n=6; Apert, n=4; Pfeiffer, n=2). Control data were available for 218 eyes of 218 healthy children. 122 controls (56%) were female. Median control age at OCT examination was 20 months (range: 0 to 163; IQR: 6 to 59). When comparing optic nerve head morphology in craniosynostosis (n=58) versus controls (n=218), disc width was 6% greater (p=0.001), temporal cup width was 13% smaller (p=0.027), rim width was 16% greater (p<0.001) and temporal RNFL was 11% smaller (p=0.027). When comparing FGFR1/2-associated syndromes (Crouzon, Apert and Pfeiffer syndromes, n=12) to the rest of the craniosynostosis group (n=46), disc width was 10% smaller (p=0.014) and temporal cup width was 38% smaller (p=0.044).

Conclusions: This cohort demonstrated morphological differences of the optic nerve head in craniosynostosis, most markedly in Crouzon, Apert and Pfeiffer syndromes. These findings could help improve ophthalmological monitoring and surgical decision-making in children with craniosynostosis. Further work on longitudinal optic nerve head changes in syndromic and non-syndromic craniosynostosis would be valuable.

Keywords: Craniosynostosis; OCT; handheld OCT; handheld optical coherence tomography; optic nerve; optic nerve head.