与Stargardt病中ABCA4基因突变相关的不同模式的眼底自发荧光。
Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease.
作者信息
Sodi Andrea, Bini Alessandro, Passerini Ilaria, Forconi Simona, Menchini Ugo, Torricelli Francesca
机构信息
Department of Oto-Neuro-Ophthalmological Surgical Sciences, Eye Clinic, University of Florence, Florence, Italy.
出版信息
Ophthalmic Surg Lasers Imaging. 2010 Jan-Feb;41(1):48-53. doi: 10.3928/15428877-20091230-09.
BACKGROUND AND OBJECTIVE
Stargardt disease is a type of juvenile-onset macular dystrophy. The clinical presentation is characterized by macular atrophy and the presence of lipofuscin storage. The aim of this study was to investigate a possible correlation between different ABCA4 gene mutations and the autofluorescence pattern.
PATIENTS AND METHODS
Twenty patients with Stargardt disease were examined for ABCA4 gene mutations and were administered fundus autofluorescence examinations.
RESULTS
Autofluorescence imaging demonstrated different patterns. ABCA4 gene analysis exhibited 16 missense mutations, 4 stop mutations, 4 splicing mutations, 3 deletions, and 1 insertion randomly distributed in the two alleles.
CONCLUSION
The presence of two severe mutations in the two alleles was associated with a larger atrophy of the retinal pigment epithelium in the macular area.
背景与目的
斯塔加特病是一种青少年型黄斑营养不良。其临床表现以黄斑萎缩和脂褐素蓄积为特征。本研究旨在探讨不同ABCA4基因突变与自发荧光模式之间的可能相关性。
患者与方法
对20例斯塔加特病患者进行ABCA4基因突变检测，并进行眼底自发荧光检查。
结果
自发荧光成像显示出不同模式。ABCA4基因分析显示在两个等位基因中随机分布有16个错义突变、4个终止突变、4个剪接突变、3个缺失和1个插入。
结论
两个等位基因中存在两个严重突变与黄斑区视网膜色素上皮的较大萎缩有关。
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