Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT.
Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT.
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作者：
Gerth, C.;Zawadzki, R. J.;Werner, J. S.;Henon, E.
采用高分辨率光学相干断层扫描（OCT）研究受Malattia Leventinese（MLVT）和EFEMP 1基因突变影响的患者的视网膜显微结构。诊断为MLVT的患者接受了全面的眼科检查，全视野和多焦视网膜电图测试，并使用高分辨率傅立叶域OCT（Fd-OCT，UC Davis Medical Center，Davis，USA;轴向分辨率：4.5 μm，采集速度：9帧s-1，1000 A扫描s-1）结合柔性扫描头（Bioptigen Inc.达勒姆，北卡罗来纳州，美国）。对两名年龄分别为30岁和60岁的MLVT相关患者进行了检测，并确定了EFEMP 1基因中的c.R345W突变。母亲和女儿表现出一个可变的表型与降低的视觉功能，在年轻的病人，而母亲有一个“形式fruster”。Fd-OCT显示广泛或局灶性视网膜下色素上皮（RPE）沉积、RPE和Bruch膜分离以及感光细胞外节层和内节层破裂。在具有RPE下沉积物的区域之外，没有可见的外部视网膜变化。EFEMP 1视网膜营养不良中的视网膜结构通过RPE/Bruch膜复合物内的形态学变化反映，其中亚RPE材料的积累与破坏的感光体完整性相关。微结构视网膜异常的模式是相似的，但在不同表型的患者中具有不同的程度。
To investigate retinal microstructure of patients affected with malattia leventinese (MLVT) and mutation in the EFEMP1 gene using high-resolution optical coherence tomography (OCT). Patients diagnosed with MLVT received a comprehensive eye exam, full-field and multifocal electroretinogram testing and imaging with a high-resolution Fourier domain OCT (Fd-OCT, UC Davis Medical Center, Davis, USA; axial resolution: 4.5 μm, acquisition speed: 9 frames s−1, 1000 A scans s−1) combined with a flexible scanning head (Bioptigen Inc. Durham, NC, USA). Two related patients aged 30 and 60 years, with MLVT and identified c.R345W mutation in the EFEMP1 gene, were tested. Mother and daughter showed a variable phenotype with reduced vision function in the younger patient, whereas the mother had a ‘form frustre’. Fd-OCT revealed extensive or focal sub-retinal pigment epithelium (RPE) deposits, separation of RPE and Bruch's membrane, and disruption of the photoreceptor outer and inner segment layers. No outer retinal changes were visible outside areas with sub-RPE deposits. Retinal structure in EFEMP1 retinal dystrophy is reflected by morphological changes within the RPE/Bruch's membrane complex with accumulation of sub-RPE material associated with disrupted photoreceptor integrity. The pattern of microstructural retinal abnormalities is similar but with a different extent in patients with variable phenotypes.
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