Paediatric glaucoma in Stickler syndromes: a comprehensive review of prevalence, comorbidities and outcomes.

Abstract

Importance: This review explores the prevalence, diagnostic challenges, associated comorbidities, and potential complications of early-onset glaucoma in individuals with Stickler syndrome. By addressing these aspects, this review aims to enhance clinical awareness, improve patient outcomes and highlight research opportunities within the paediatric Stickler syndrome population.

Methods and results: Of 185 unique studies, 51 duplicates were removed, leaving 15 studies for analysis. The review included data from 679 patients, of whom 82 were reported as being diagnosed with glaucoma, yielding an overall prevalence of 12.1%. The prevalence was 7.5% in patients aged 0-10 years and remained stable through age 20. It then increased to 18% in patients aged 21-40 years, before slightly decreasing to 16.5% in those over 40. Paediatric patients with Stickler syndrome and glaucoma exhibited a higher risk of cataract (56% vs 22%, OR 4.5, p<0.05) and hearing loss (70% vs 31% OR 5.2, p<0.05) compared with those without glaucoma.

Conclusions: Early identification of clinical signs is critical for effective intervention. Paediatric patients with Stickler syndrome, particularly those with cataract or hearing loss, are at higher risk of glaucoma and, therefore, should be closely monitored, in addition to regular retinal assessments. Given the limitations of this review-including small sample sizes and variable diagnostic methods-larger standardised studies are needed to refine glaucoma prevalence estimates and clinical guidelines for Stickler syndrome.