Prevalence and Clinical Associations of Peripapillary Hyperreflective Ovoid Mass-like Structures in Craniosynostosis

Background: Patients with craniosynostosis are at high risk of developing elevated intracranial pressure (ICP) causing papilledema and secondary optic atrophy. Diagnosing and monitoring optic neuropathy is challenging because of multiple causes of vision loss including exposure keratopathy, amblyopia, and cognitive delays that limit examination. Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are an optical coherence tomography (OCT) finding reported in association with papilledema and optic neuropathy. We investigated the prevalence of PHOMS in patients with syndromic craniosynostosis and the relationship with known risk factors of optic neuropathy. Methods: This was a cross-sectional retrospective study was performed at Boston Children's Hospital and included 118 eyes (60 patients) with syndromic craniosynostosis that had at least one good quality optic nerve OCT volumetry scan between January 2010 and December 2023. Testing was reviewed by 2 neuro-ophthalmologists to determine the presence of PHOMS. Information collected included demographics, and clinical course including possible Chiari malformation, obstructive sleep apnea (OSA), history of elevated ICP, best-corrected visual acuity (VA), spherical equivalent (SE), retinal nerve fiber layer thickness, macular ganglion cell layer volume, and funduscopic examination. Our primary outcome measure was presence of PHOMS, and secondary outcome measure was the relationship between clinical characteristics and the presence of PHOMS. Results: Mean age at imaged OCT was 9.8 ± 5.2 years and 41/60 (68.3%) patients were female. The prevalence of PHOMS was 17/60 patients (28.3%) or 26/118 eyes (22.0%), higher than previously reported in children without craniosynostosis ( P < 0.001). PHOMS were significantly associated with a history of elevated ICP (odds ratio [OR] 14.4, 95% CI: 1.9–111.0, P < 0.001) and with concurrent papilledema (OR 40.4, 95% CI: 6.6–248.0, P < 0.001). OSA, Chiari malformation, best-corrected VA, craniosynostosis variant, and SE were not independently associated with PHOMS. Conclusions: Eyes in children with craniosynostosis had a higher prevalence of PHOMS than reported in children without craniosynostosis. PHOMS were significantly more common with a history of elevated ICP and with concurrent papilledema. PHOMS may serve as a clinically useful indicator of optic neuropathy, and of recurrence of papilledema in patients with craniosynostosis and in other populations characterized by multiple sources of vision loss and cognitive changes that limit evaluation.