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

ABSTRACT:

Introduction

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.

Case presentations

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

SUBMITTER: Gocuk SA 

PROVIDER: S-EPMC12799227 | biostudies-literature | 2026 Jan-Dec

REPOSITORIES: biostudies-literature