谷胱甘肽合成酶缺乏症的眼底自发荧光和光学相干断层扫描结果

Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency.

作者信息

Şekeroğlu Hande Taylan, Hismi Burcu, Kadayifcilar Sibel, Coskun Turgay

机构信息

Department of Ophthalmology, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.

Division of Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.

出版信息

J AAPOS. 2015 Feb;19(1):80-2. doi: 10.1016/j.jaapos.2014.09.014.

DOI:10.1016/j.jaapos.2014.09.014

PMID:25727596

Abstract

We report the autofluorescence pattern and optical coherence tomography (OCT) characteristics in a 6-year-old boy with glutathione synthetase deficiency. The patient underwent complete ophthalmological examination, including full-field electroretinography, visual evoked potentials, fundus autofluorescence, and OCT imaging. Electrophysiological studies showed time-delay and subnormal responses. Fundus autofluorescence imaging revealed increased parafoveal autofluorescence compared to normal, and OCT showed alteration of photoreceptor and retinal pigment epithelium layers in the parafoveal region.

摘要

我们报告了一名患有谷胱甘肽合成酶缺乏症的6岁男孩的自发荧光模式和光学相干断层扫描（OCT）特征。该患者接受了全面的眼科检查，包括全视野视网膜电图、视觉诱发电位、眼底自发荧光和OCT成像。电生理研究显示有时间延迟和反应低于正常水平。眼底自发荧光成像显示与正常情况相比，黄斑旁区域的自发荧光增加，并且OCT显示黄斑旁区域的光感受器和视网膜色素上皮层有改变。