Sheck Leo, Al-Taie Rasha, Sharp Dianne, Vincent Andrea
Ophthalmology Department, University of Auckland, Auckland, New Zealand.
BMJ Case Rep. 2011 Aug 17;2011:bcr0620114388. doi: 10.1136/bcr.06.2011.4388.
Alström syndrome (AS) is a ciliopathy and an uncommon cause of syndromic retinal dystrophy. This case reports findings in a 5-year-old boy with severe early onset retinal dystrophy, and how the recognition of extraocular features with genetic analysis led to the correct diagnosis of AS after 4 years of investigation.
阿尔斯特伦综合征（AS）是一种纤毛病，是综合征性视网膜营养不良的罕见病因。本病例报告了一名5岁严重早发性视网膜营养不良男孩的检查结果，以及在经过4年的调查后，如何通过对眼外特征的识别和基因分析得出AS的正确诊断。
