Abstract：
Stickler syndromes are inherited conditions caused by abnormalities of structural proteins in the eye, inner ear and cartilage. The risk of retinal detachment, particularly due to the development of giant retinal tears, is high. Stickler syndrome is the most common cause of childhood retinal detachment. Although retinal detachment surgery in the general population has a high success rate, outcomes from surgical repair in Stickler syndrome patients are notoriously poor, providing a strong argument for prophylactic intervention. Variable case selection, absence of molecular genetic sub-typing and inconsistent treatment strategies have all contributed to the historic uncertainty regarding the safety and efficacy of prophylactic treatment. This paper reviews the major published clinical studies that have evaluated different methods and strategies for prophylaxis. Based on the current body of literature, there is extremely strong evidence from cohort comparison studies demonstrating the efficacy and safety of prophylactic retinopexy to reduce, but not eliminate, the risk of retinal detachment in Stickler syndrome patients. It is vital that this body of evidence is provided to Stickler syndrome patients, to enable them to make their own fully informed choice about whether to receive prophylaxis for themselves and particularly on behalf of their affected children, to reduce the risk of retinal detachment.
摘要：
Stickler综合征是由眼睛结构蛋白异常引起的遗传性疾病，内耳和软骨。视网膜脱离的风险,特别是由于巨大的视网膜撕裂的发展，是高的。Stickler综合征是儿童视网膜脱离的最常见原因。虽然一般人群的视网膜脱离手术成功率较高,众所周知，斯蒂克勒综合征患者手术修复的结果很差，为预防性干预提供了强有力的论据。可变案例选择，缺乏分子遗传分型和不一致的治疗策略都导致了预防性治疗安全性和有效性的历史不确定性。本文回顾了已发表的主要临床研究，这些研究评估了预防的不同方法和策略。根据目前的文献，队列比较研究有非常有力的证据表明预防性视网膜固定术的有效性和安全性，但不能消除，Stickler综合征患者视网膜脱离的风险.向Stickler综合征患者提供这些证据是至关重要的，使他们能够在充分知情的情况下选择是否为自己，特别是代表受影响的儿童接受预防，以降低视网膜脱离的风险。
