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Optic Nerve Head Morphological Variation in Craniosynostosis: A Cohort Study
Sohaib R Rufai1, Mervyn G Thomas2, Oliver R Marmoy3
1From the Clinical and Academic Department of Ophthalmology (S.R.R., O.R.M., V.P., D.A.T., R.H. H., S.G., R.B.), Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health, London, UK; Craniofacial Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health (S.R.R., G.J., D.J.D., R.H., N.u.O.J.), London, UK; The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary (S.R.R., M.G.T., I.G., F.A.P.), Leicester, UK.
Children with craniosynostosis show distinct optic nerve head (ONH) morphology, particularly those with FGFR1/2-associated syndromes. These findings aid in ophthalmological monitoring and surgical planning for craniosynostosis.
Area of Science:
- Ophthalmology
- Pediatric Neurology
- Medical Imaging
Background:
- Craniosynostosis, a condition involving premature fusion of skull sutures, can impact intracranial pressure and neurodevelopment.
- Optic nerve head (ONH) morphology may be altered in children with craniosynostosis, necessitating detailed ophthalmological evaluation.
- Understanding these morphological changes is crucial for managing potential visual complications.
Purpose of the Study:
- To compare the optic nerve head (ONH) morphology between children with craniosynostosis and healthy controls.
- To identify specific ONH structural differences associated with craniosynostosis, including syndromic forms.
- To provide data that may inform ophthalmological monitoring and surgical interventions.
Main Methods:
- A prospective cohort study involving 58 children (aged 0-13 years) with craniosynostosis, utilizing handheld optical coherence tomography (OCT).
- Inclusion criteria focused on stable intracranial pressure, with controls drawn from a published normative dataset (218 eyes).
- Key outcome measures included disc width, cup width, rim width, and retinal nerve fiber layer thickness, analyzed via regression models comparing syndromic, non-syndromic craniosynostosis, and controls.
Main Results:
- Children with craniosynostosis exhibited a significantly greater disc width (6%), larger rim width (16%), and thinner temporal retinal nerve fiber layer (11%) compared to controls.
- Fibroblast growth factor receptor (FGFR) 1/2-associated syndromes (Crouzon, Apert, Pfeiffer) showed a smaller disc width (10%) and temporal cup width (38%) compared to non-FGFR craniosynostosis cases.
- Handheld OCT imaging proved successful in 92% of eligible children.
Conclusions:
- Significant morphological differences in the ONH exist in children with craniosynostosis, particularly pronounced in FGFR1/2-associated syndromes.
- These ONH variations may influence ophthalmological monitoring strategies and surgical decision-making.
- Further longitudinal studies on ONH changes in syndromic and non-syndromic craniosynostosis are recommended.
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