Journal of Neuro-Ophthalmology最新文献

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.

In this issue, of JNO, Drs. Deborah I. Friedman and Mark L. Moster discuss the following 4 journal articles: Jonzzon S, Price A, Troung N, Naftel RP, Phillips PH, Wellons JC, Isaacs AM. Neuro-ophthalmological findings in pediatric ventricular shunt failure: a systematic review. J Neurosurg Pediatr. 2025;36:29-35. doi: 10.3171/2024.12.PEDS24397.Barton JJS, Özturan G. The varieties of junctional scotoma: 17 cases, a review, and a taxonomy. Eye (Lond). 2025;39:1673-1687. doi: 10.1038/s41433-025-03789-z.Shah SK, Indurkar A, Patel BK. Surgical management and visual outcomes of optic-pathway cavernous malformations: A comprehensive literature review of 80 reported cases (1979-2025). Clin Neurol Neurosurg. 2025;256:108988. doi: 10.1016/j.clineuro.2025.108988.Ko J, Lee MJ, Khwarg SI, Yoon JS, Yang SW, Son J, Kim N, Lew H; Multicenter Study Committee of the Korean Society of Ophthalmic Plastic and Reconstructive Surgery. Immunoglobulin G4-related ophthalmic disease: A Nationwide Multicenter Study in Korea. Ophthalmology. 2025;132:995-1004. doi: 10.1016/j.ophtha.2025.04.031.

Background: The prevalence of idiopathic intracranial hypertension (IIH) is rising with the global obesity epidemic. Carbonic anhydrase inhibitors (CAIs), such as acetazolamide, have been shown to be effective in IIH but can also lead to kidney stone formation. This study evaluates the risk of kidney stone development in patients with IIH treated with CAIs.

Methods: A retrospective cohort study using the TriNetX database was performed to compare patients with IIH treated with CAIs vs. untreated controls. Propensity score matching (PSM) balanced demographic and clinical variables. The primary outcome was kidney stone incidence for 3 time intervals: 1 year, 1-2 years, and 2-3 years, identified using International Classification of Diseases-10 codes. Risk ratios (RRs) with 95% confidence intervals (CIs) assessed the association between CAI treatment and kidney stone formation.

Results: The study evaluated 23,182 patients with IIH treated with CAIs compared with 50,080 untreated controls. After applying PSM, each group was balanced to include 22,464 patients. The treated group had a significantly higher risk of developing kidney stones than the control group, with an RR of 1.49 (95% CI: 1.22-1.84) at 1 year, 2.24 (95% CI: 1.61-3.12) at 1-2 years, and 1.51 (95% CI: 1.05-2.18) at 2-3 years. Sensitivity analysis of patients treated with at least 500 mg of acetazolamide shared this elevated trend, and the risk remained persistently high at 2-3 years (RR: 2.18, 95% CI: 1.13-4.20). Subgroup analysis revealed higher risks in males, while Black or African American patients had a lower risk.

Conclusions: Carbonic anhydrase inhibitor use in patients with IIH may increase kidney stone risk, particularly in certain populations. Further research is needed to understand the mechanisms behind this risk and to optimize treatment strategies.