Department of Ophtalmology, Rigshospitalet , Glostrup, Denmark.
Department of Clinical Medicine, University of Copenhagen , Copenhagen, Denmark.
Ophthalmic Genet. 2020 Jun;41(3):223-234. doi: 10.1080/13816810.2020.1747092. Epub 2020 Apr 21.
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.
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.
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.
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.
成骨不全症是一种由 COL2A1（STL1）或 COL11A1（STL2）基因突变引起的胶原病。受影响的患者表现出不同程度的眼部、听觉、关节和颅面表现。眼部症状包括近视、视网膜脱离、白内障和青光眼。本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降低视网膜脱离风险的效果。
在 PubMed 数据库中进行了系统的文献检索。信息包括跨研究近视、视网膜脱离、白内障、青光眼、视力障碍、近视和视网膜脱离的严重程度和发病年龄的患病率。探讨了报告针对对照组的预防性治疗结果的研究。
纳入了 37 篇文章，共 2324 名患者。83%的患者有近视，多为中重度。45%的患者发生视网膜脱离。一般来说，STL1 患者的第一次脱离发生在第二十年，而 STL2 患者则较晚。STL2 患者的白内障更为常见，59%比 STL1 患者的 36%。青光眼（10%）和视力障碍（失明：6%；一眼视力丧失：10%）罕见。有 3 项研究报告了预防性治疗的效果。
眼部表现常见于成骨不全症患者，但由于不同研究的诊断和纳入标准不一致，研究之间的比较较为困难。威胁视力的并发症如视网膜脱离很常见，但尽管回顾性研究报告预防性治疗有效，但缺乏随机试验证据。
