舍格伦-拉尔松综合征：光学相干断层扫描与一种新突变
Sjögren-Larsson syndrome: optical coherence tomography and a novel mutation.
作者信息
Burgueño-Montañés C, García-Fernández M, Colunga-Cueva M, García-López A
机构信息
Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España.
Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España.
出版信息
Arch Soc Esp Oftalmol. 2014 Dec;89(12):504-7. doi: 10.1016/j.oftal.2013.11.010. Epub 2013 Dec 27.
CASE REPORT
A case is presented of a thirty year-old male with ichthyosis, mental retardation, epilepsy and spasticity. Ocular examination showed a best-corrected visual acuity of 0.5 and bilateral crystalline maculopathy. Optical coherence tomography (OCT) revealed focal hyperreflective spots and intrafoveal microcystoid spaces. The diagnosis of Sjögren-Larsson syndrome (SLS) was made, and confirmed by genetic analysis.
DISCUSSION
SLS is caused by mutations in the ALDH3A2 gene. A previously unreported novel mutation was identified, c.681-14T>G. Macular OCT makes it possible to find even funduscopy invisible changes. Its use is important because the OCT features of SLS are specific and, therefore, it can help to diagnose this rare systemic disease.
病例报告
本文介绍了一名30岁男性患者，患有鱼鳞病、智力发育迟缓、癫痫和痉挛。眼部检查显示最佳矫正视力为0.5，双侧晶状体性黄斑病变。光学相干断层扫描（OCT）显示局部高反射斑点和黄斑中心凹内微囊样间隙。诊断为舍格伦-拉尔松综合征（SLS），并通过基因分析得以证实。
讨论
SLS由ALDH3A2基因突变引起。鉴定出一个先前未报道的新突变，即c.681-14T>G。黄斑OCT能够发现即使眼底镜检查也无法察觉的变化。其应用很重要，因为SLS的OCT特征具有特异性，因此有助于诊断这种罕见的全身性疾病。
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