Supplementary Material for: Paediatric presentations of early-onset glaucoma and Stickler syndrome: A case series

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. 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.
Conclusion: 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.

引言：斯提克勒综合征（Stickler Syndrome）是一类多系统结缔组织疾病，以一系列眼部及全身表现为特征，其中包括早发性青光眼（early-onset glaucoma）风险升高。本报告描述了2名初诊年龄小于1岁的儿科患者，最终均被诊断为斯提克勒综合征合并婴儿型早发性青光眼（infantile-onset glaucoma）。尽管二者基因型（genotype）存在差异，但表型（phenotype）较为相似，最显著的特征为单侧青光眼发作的突出表现。
病例报告：两名患者均表现为单侧高眼压与牛眼（buphthalmus），随后因颅面畸形（craniofacial abnormalities）接受手术治疗。为实现眼压控制，二者均需接受多次手术干预，且均出现包括听力损失与白内障在内的合并症（comorbidities）。本案例凸显了斯提克勒综合征的全身表现与儿科青光眼管理难点之间的复杂相互作用，尤其是在伴有眼球增大的晚期病例中。
结论：本案例凸显了由于频繁需要手术、麻醉下检查及长期随访，给家庭与医疗体系带来的沉重负担。临床医师应将斯提克勒综合征纳入早发性青光眼的鉴别诊断（differential diagnosis），即便无明显全身体征。早期识别可为优化视觉预后提供关键契机，并为患病儿童及其照护者提供适宜支持。同时应向家属告知青光眼的发病风险与早期体征。