Background

Stickler syndrome is a collagenopathy caused by mutations in the genes COL2A1 (STL1) or COL11A1 (STL2). Affected patients manifest ocular, auditory, articular, and craniofacial manifestations in varying degrees. Ocular symptoms include myopia, retinal detachment, cataract, and glaucoma. The aim of this systematic review was to evaluate the prevalence of ocular manifestations and the outcome of prophylactic treatment on reducing the risk of retinal detachment.

Method

A systematic literature search was performed in the PubMed database. Information on the cross-study prevalence of myopia, retinal detachment, cataract, glaucoma, visual impairment, severity and age of onset of myopia and retinal detachments. Studies that reported on the outcome of prophylactic treatment against a control group were explored.

Results

37 articles with 2324 individual patients were included. Myopia was found in 83% of patients, mostly of a moderate to severe degree. Retinal detachments occurred in 45% of patients. Generally, the first detachment occurred in the second decade of life in STL1 patients and later in STL2. Cataracts were more common in STL2 patients, 59% versus 36% in STL1. Glaucoma (10%) and visual impairment (blind: 6%; vision loss in one eye: 10%) were rare. Three studies reported on the effect of prophylactic treatment being protective.

Conclusion

Ocular manifestations are common in Stickler patients, but the comparison between studies was difficult because of inconsistencies in diagnostic and inclusion criteria by different studies. Sight-threatening complications such as retinal detachments are common but although prophylactic therapy is reported to be effective in retrospective studies, evidence from randomized trials is missing.

中文翻译：

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Stickler综合征的眼部并发症和预防策略：系统的文献综述。

背景

斯蒂克勒综合征是一种胶原病，由基因COL2A1（STL1）或COL11A1（STL2）的突变引起。受影响的患者在不同程度上表现出眼，听觉，关节和颅面的表现。眼部症状包括近视，视网膜脱离，白内障和青光眼。该系统评价的目的是评估眼部表现的患病率以及预防性治疗对降低视网膜脱离风险的效果。

方法

在PubMed数据库中进行了系统的文献检索。有关近视，视网膜脱离，白内障，青光眼，视力障碍，近视发作的严重程度和发病年龄以及视网膜脱离的交叉研究患病率的信息。探索了报道针对对照组的预防性治疗结果的研究。

结果

纳入37篇文章，涉及2324名个体患者。在83％的患者中发现了近视，大多数患者属于中度至重度。视网膜脱离发生在45％的患者中。通常，第一次剥离发生在STL1患者的生命的第二个十年中，随后发生在STL2患者中。白内障在STL2患者中更为常见，分别为59％和36％。青光眼（10％）和视力障碍（盲：6％；一只眼睛的视力丧失：10％）很少见。三项研究报道了预防性治疗具有保护作用。

结论

在Stickler患者中眼部表现很常见，但是由于不同研究的诊断标准和纳入标准不一致，因此难以进行研究之间的比较。眼部并发症，例如视网膜脱离很常见，但尽管回顾性研究报道预防性疗法是有效的，但缺乏随机试验的证据。