Disruption in Bruch membrane in patients with Stargardt disease.
Disruption in Bruch membrane in patients with Stargardt disease.
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DOI：
10.3109/13816810.2011.628358
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发表时间：
2012-03
影响因子：
1.2
通讯作者：
Tsang SH
中科院分区：
文献类型：
--
作者：
Park SP;Chang S;Allikmets R;Smith RT;Burke TR;Gregory-Roberts E;Tsang SH
描述2例视网膜色素上皮（RPE）完全缺损伴Bruch膜破裂的Stargardt病（STGD 1）患者的光谱域光学相干断层扫描（SD-OCT）结果。两名STGD 1患者被转诊到我们的诊所进行进一步评估。采用眼底自发荧光（FAF）、光谱域光学相干断层扫描（SD-OCT）、视网膜电图（ERG）和微视野（MP-1）检查评价视网膜解剖结构和功能。进行ABCA 4基因突变的筛选，并通过直接测序确认检测到的突变。两例患者均患有双侧黄斑地图样萎缩（GA）和黄色视网膜下鱼状波纹，通过芯片筛查检测到ABCA 4基因突变。SD-OCT显示中央黄斑的视网膜明显萎缩，4只眼中有3只眼的RPE局灶性缺损伴Bruch膜破裂和通过缺损的视网膜疝。本病例报告强调了对STGD 1患者进行详细眼科检查（包括SD-OCT）的必要性。
To describe the spectral domain-optical coherence tomography (SD-OCT) findings of two patients with complete defects in the retinal pigment epithelium (RPE) with disruptions in Bruch membrane in Stargardt disease (STGD1). Two patients with STGD1 were referred to our clinic for further evaluation. Fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT), electroretinography (ERG) and Microperimetry (MP-1) were performed to assess the retinal anatomy and function. Screening for mutations in the ABCA4 gene was carried out and detected mutations were confirmed by direct sequencing. Both patients had bilateral macular geographic atrophy (GA) and yellowish subretinal pisciform flecks and mutations were detected in the ABCA4 gene by chip screening. SD-OCT revealed marked atrophy of the retina in the central macula, with focal defects in the RPE with disruptions in Bruch membrane and herniation of the retina through the defect in three of four eyes. This case report highlights the necessity for a detailed ophthalmic examination including SD-OCT of patients with STGD1.
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影响因子：
--
作者：
Marcus, DM;Rustgi, AK;Smith, S
通讯作者：
Smith, S
Stargardt疾病患者的眼底自动荧光和视网膜结构的比较。
影响因子：
4.4
作者：
Gomes NL;Greenstein VC;Carlson JN;Tsang SH;Smith RT;Carr RE;Hood DC;Chang S
通讯作者：
Chang S
影响因子：
--
作者：
FISHMAN, GA
通讯作者：
FISHMAN, GA
影响因子：
4.2
作者：
Wirtitsch, MG;Ergun, E;Drexler, W
通讯作者：
Drexler, W
影响因子：
1.2
作者：
Burke TR;Tsang SH
通讯作者：
Tsang SH