期刊
EYE
卷 25, 期 11, 页码 1389-1400出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/eye.2011.201
关键词
collagen; COL2A1; COL11A1; Stickler syndrome; retinal detachment; vitreous
资金
- Isaac Newton Trust
- Guide Dogs for the Blind Association
- Evelyn Trust
- University of Cambridge
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. Eye (2011) 25, 1389-1400; doi:10.1038/eye.2011.201; published online 16 September 2011
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