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[伴有孔源性视网膜脱离的斯蒂克勒综合征]

[Stickler syndrome with rhegmatogenous retinal detachment].

作者信息

Watanabe Hiroka, Kohzaki Kenichi, Kubo Hiroyuki, Okano Kiichiro, Watanabe Akira, Tsuneoka Hiroshi

机构信息

Department of Ophthalmology, The Jikei University Hospital, Tokyo, Japan.

出版信息

Nippon Ganka Gakkai Zasshi. 2010 May;114(5):454-8.

Abstract

BACKGROUND

Stickler syndrome is an autosomal dominant disease characterized by various disorders of the eyes and the connective tissues throughout the body. It can arise from a mutation in the collagen associated gene. We present a case of Stickler syndrome with rhegmatogenous retinal detachment.

CASE

A 10-years-old boy was referred to us with rhegmatogenous retinal detachment of the right eye. His family history included eye disease and a cleft palate. He had high myopia, vitreous liquefaction and lattice degeneration in the both eye. He also had a cleft palate and a broad nasal bridge. His condition was diagnosed as Stickler syndrome. We performed vitrectomy, scleral buckling and encircling, and silicone oil injection in the right eye. We also did a reattachment of the retina in the right eye.

CONCLUSIONS

Pediatric retinal detachment may indicate the presence of Stickler syndrome and a complete examination of the eye as well as a full family history must be obtained in such cases.

摘要

背景

斯蒂克勒综合征是一种常染色体显性疾病,其特征为眼部及全身结缔组织出现多种病症。它可能由胶原蛋白相关基因的突变引起。我们报告一例患有孔源性视网膜脱离的斯蒂克勒综合征病例。

病例

一名10岁男孩因右眼孔源性视网膜脱离转诊至我院。他的家族病史包括眼部疾病和腭裂。他双眼均有高度近视、玻璃体液化和格子样变性。他还患有腭裂和宽鼻梁。他的病情被诊断为斯蒂克勒综合征。我们对其右眼进行了玻璃体切除术、巩膜扣带术和环扎术,并注入了硅油。我们还对右眼视网膜进行了复位。

结论

小儿视网膜脱离可能提示斯蒂克勒综合征的存在,在这种情况下必须对眼部进行全面检查并获取完整的家族病史。

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