最佳卵黄样黄斑营养不良中的定量眼底自发荧光：视网膜非病变区域的视网膜色素上皮脂褐质未增加。
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina.
作者信息
Sparrow Janet R, Duncker Tobias, Woods Russell, Delori François C
机构信息
Department of Ophthalmology, Harkness Eye Institute, Columbia University Medical Center, 635 W. 165th Street, 10032, New York, NY, USA.
Department of Pathology and Cell Biology, Columbia University Medical Center, 635 W. 165th Street, 10032, New York, NY, USA.
出版信息
Adv Exp Med Biol. 2016;854:285-90. doi: 10.1007/978-3-319-17121-0_38.
Abstract
Since the lipofuscin of retinal pigment epithelial (RPE) cells has been implicated in the pathogenesis of Best vitelliform macular dystrophy, we quantified fundus autofluorescence (quantitative fundus autofluorescence, qAF) as an indirect measure of RPE lipofuscin levels. Mean non-lesion qAF was found to be within normal limits for age. By spectral domain optical coherence tomography (SD-OCT) vitelliform lesions presented as fluid-filled subretinal detachments containing reflective material. We discuss photoreceptor outer segment debris as the source of the intense fluorescence of these lesions and loss of anion channel functioning as an explanation for the bullous photoreceptor-RPE detachment. Unexplained is the propensity of the disease for central retina.
摘要
由于视网膜色素上皮（RPE）细胞的脂褐质与Best卵黄样黄斑营养不良的发病机制有关，我们对眼底自发荧光（定量眼底自发荧光，qAF）进行了量化，作为RPE脂褐质水平的间接测量指标。发现平均非病变qAF在年龄正常范围内。通过光谱域光学相干断层扫描（SD-OCT），卵黄样病变表现为含有反光物质的视网膜下液性脱离。我们讨论了光感受器外段碎片作为这些病变强烈荧光的来源，以及阴离子通道功能丧失作为大疱性光感受器-RPE脱离的一种解释。该疾病对视网膜中央区域的倾向尚无法解释。
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本文引用的文献
1
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Ophthalmology. 2014 Aug;121(8):1572-8. doi: 10.1016/j.ophtha.2014.02.023. Epub 2014 Apr 19.
2
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3
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4
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5
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6
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8
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Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4771-80. doi: 10.1167/iovs.09-4561. Epub 2010 Apr 14.
10
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Prog Retin Eye Res. 2009 May;28(3):206-26. doi: 10.1016/j.preteyeres.2009.04.004. Epub 2009 May 4.
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