Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series

Stickler syndromes are multisystem connective tissue disorders characterised by a range of ocular and systemic features, including an increased risk of early-onset glaucoma. This report describes two paediatric patients initially assessed before the age of one who were ultimately diagnosed with both Stickler syndrome and infantile-onset glaucoma. Despite different genotypes, both shared similar phenotypes, most notably a strikingly unilateral glaucoma presentation.

Both patients presented with unilateral ocular hypertension and buphthalmus, followed by surgery for craniofacial abnormalities. Multiple surgical interventions were required to achieve intraocular pressure control and both developed comorbidities including hearing loss and cataract. These cases underscore the complex interplay between systemic features of Stickler syndrome and the challenges of managing paediatric glaucoma, particularly in advanced cases with ocular enlargement.

The cases highlight the considerable burden placed on families and healthcare systems due to the frequent need for surgeries, examinations under anaesthesia, and prolonged follow-up. Clinicians should consider Stickler syndrome in the differential diagnosis of early-onset glaucoma, even in the absence of overt systemic signs. Early recognition may offer a crucial opportunity to optimise visual outcomes and provide appropriate support for affected children and their caregivers. Families should also be counselled regarding the risk and early signs of glaucoma.