Vitreoretinal Service, Molecular Genetics and Medical Genetics, Cambridge, UK.
Eye (Lond). 2011 Nov;25(11):1389-400. doi: 10.1038/eye.2011.201. Epub 2011 Sep 16.
The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and are the most common cause of inherited rhegmatogenous retinal detachment. This review article is intended to provide the ophthalmologist with an update on current research, subgroups, and their diagnosis together with a brief overview of allied conditions to be considered in the clinical differential diagnosis. We highlight the recently identified subgroups with a high risk of retinal detachment but with minimal or absent systemic involvement--a particularly important group for the ophthalmologist to identify.
冈纳·施蒂克勒（Gunnar Stickler）所描述的包含与视网膜脱离相关的遗传性关节眼病的实体，最近已被认为由多个亚组组成，现在可能更恰当地被称为施蒂克勒综合征。它们是 II 型/XI 型胶原病最常见的临床表现，也是遗传性孔源性视网膜脱离最常见的原因。这篇综述文章旨在为眼科医生提供最新的研究进展、亚组及其诊断信息，并简要介绍在临床鉴别诊断中需要考虑的相关疾病。我们重点介绍了最近发现的具有高视网膜脱离风险但系统受累最小或无的亚组，这对眼科医生来说是一个特别重要的识别群体。
