PDF(Pubmed)
Abstract：
BACKGROUND: Enhanced S-cone syndrome is an autosomal recessive retinal dystrophy related to a defect in a nuclear receptor gene (NR2E3) that leads to alteration in cells development from rod to S-cone. This retinal dystrophy may be associated with retinal schisis. The aim of this report is to describe structural optical coherence tomography and optical coherence tomography angiography features in a case of enhanced S-cone syndrome associated with macular schisis.
METHODS: A Caucasian 13-year-old girl underwent measurement of best corrected visual acuity, ophthalmoscopic evaluation, and fundus autofluorescence examination. Photopic and scotopic electroretinography were carried out as well. Enhanced S-cone syndrome was suspected on the basis of clinical and electrophysiological findings. Structural optical coherence tomography and optical coherence tomography angiography allowed the further characterization of the associated macular schisis. Genetic analysis not only confirmed the diagnosis but increased the clinical novelty of this case report by showing two variations in the NR2E3 gene probably related to the phenotype: a missense variation c.1118T>C which leads to the substitution of leucine with proline in amino acid position 373, and c.349+5G>C, which involves a gene sequence near a splicing site.
CONCLUSIONS: Swept source structural optical coherence tomography (B scans and \"en face\" images) and optical coherence tomography angiography allowed the observation of retinal structural details and the involvement of each retinal layer and capillary plexus in enhanced S-cone syndrome. Of interest, neither of the two NR2E3 gene variants found in this case report have been linked to any form of retinopathy.
METHODS: A Caucasian 13-year-old girl underwent measurement of best corrected visual acuity, ophthalmoscopic evaluation, and fundus autofluorescence examination. Photopic and scotopic electroretinography were carried out as well. Enhanced S-cone syndrome was suspected on the basis of clinical and electrophysiological findings. Structural optical coherence tomography and optical coherence tomography angiography allowed the further characterization of the associated macular schisis. Genetic analysis not only confirmed the diagnosis but increased the clinical novelty of this case report by showing two variations in the NR2E3 gene probably related to the phenotype: a missense variation c.1118T>C which leads to the substitution of leucine with proline in amino acid position 373, and c.349+5G>C, which involves a gene sequence near a splicing site.
CONCLUSIONS: Swept source structural optical coherence tomography (B scans and \"en face\" images) and optical coherence tomography angiography allowed the observation of retinal structural details and the involvement of each retinal layer and capillary plexus in enhanced S-cone syndrome. Of interest, neither of the two NR2E3 gene variants found in this case report have been linked to any form of retinopathy.
摘要：
背景：增强型S-锥综合征是一种常染色体隐性遗传性视网膜营养不良，与核受体基因（NR2E3）缺陷有关，该缺陷导致细胞从杆向S-锥发育的改变。这种视网膜营养不良可能与视网膜裂隙有关。本报告的目的是描述与黄斑裂开相关的增强S-锥综合征的结构光学相干断层扫描和光学相干断层扫描血管造影特征。
方法：一名13岁的高加索女孩接受了最佳矫正视力的测量，检眼镜评估，和眼底自发荧光检查。还进行了暗视和暗视视网膜电描记术。根据临床和电生理发现，怀疑增强的S-锥综合征。结构光学相干断层扫描和光学相干断层扫描血管造影可以进一步表征相关的黄斑裂开。遗传分析不仅证实了诊断，而且通过显示NR2E3基因中可能与表型有关的两个变异，增加了该病例报告的临床新颖性：错义变异c.1118T>C，导致亮氨酸在氨基酸位置373被脯氨酸取代，c.3495G>C，其中涉及剪接位点附近的基因序列。
结论：扫描源结构光学相干断层扫描（B扫描和“正面”图像）和光学相干断层扫描血管造影可以观察视网膜结构细节以及每个视网膜层和毛细血管丛的受累情况。感兴趣的，本病例报告中发现的两种NR2E3基因变异均未与任何形式的视网膜病变相关.
方法：一名13岁的高加索女孩接受了最佳矫正视力的测量，检眼镜评估，和眼底自发荧光检查。还进行了暗视和暗视视网膜电描记术。根据临床和电生理发现，怀疑增强的S-锥综合征。结构光学相干断层扫描和光学相干断层扫描血管造影可以进一步表征相关的黄斑裂开。遗传分析不仅证实了诊断，而且通过显示NR2E3基因中可能与表型有关的两个变异，增加了该病例报告的临床新颖性：错义变异c.1118T>C，导致亮氨酸在氨基酸位置373被脯氨酸取代，c.3495G>C，其中涉及剪接位点附近的基因序列。
结论：扫描源结构光学相干断层扫描（B扫描和“正面”图像）和光学相干断层扫描血管造影可以观察视网膜结构细节以及每个视网膜层和毛细血管丛的受累情况。感兴趣的，本病例报告中发现的两种NR2E3基因变异均未与任何形式的视网膜病变相关.
