Quantitative Fundus Autofluorescence in Recessive Stargardt Disease
Quantitative Fundus Autofluorescence in Recessive Stargardt Disease
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DOI：
10.1167/iovs.13-13624
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发表时间：
2014-05-01
影响因子：
4.4
通讯作者：
Delori, Francois C.
中科院分区：
文献类型：
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作者：
Burke, Tomas R.;Duncker, Tobias;Delori, Francois C.
目的.目的探讨隐性遗传性Stargardt病（STGD 1）患者眼底自发荧光（qAF）的定量检测方法。共研究了42名STGD 1患者（年龄：7-52岁），他们至少有一个经证实的疾病相关ABCA 4突变。眼底AF图像（488 nm激发）采集与共焦扫描激光检眼镜配备了内部荧光参考，以说明可变的激光功率和检测器灵敏度。将每个图像的灰度级（GL）校准到参考、零GL、放大率和标准光学介质密度以产生qAF。计算纹理因子（TF）以表征AF图像中的不均匀性，并将患者分配至Fishman I至III. RTS的表型。42例患者中36例的定量眼底自发荧光和27例的TF高于年龄的正常范围。年轻患者表现出相对最高的qAF，水平比健康眼睛高8倍。Fishman II和III的定量眼底自发荧光和TF高于Fishman I，Fishman I的qAF和TF高于健康眼。携带G1916 E突变的患者qAF和TF低于大多数其他患者，即使存在与严重疾病相关的第二个等位基因。定量眼底自发荧光是一种间接的方法来测量RPE脂褐素在体内。我们报告ABCA 4突变导致qAF显著升高，与先前的报告一致，表明RPE脂褐素增加是STGD 1的标志。即使眼底AF图像中的定性差异不明显，qAF也可以阐明表型变异。定量眼底自发荧光将用于建立基因型-表型相关性，并作为临床试验的结果测量。
PURPOSE. To quantify fundus autofluorescence (qAF) in patients with recessive Stargardt disease (STGD1).METHODS. A total of 42 STGD1 patients (ages: 7-52 years) with at least one confirmed disease-associated ABCA4 mutation were studied. Fundus AF images (488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The gray levels (GLs) of each image were calibrated to the reference, zero GL, magnification, and normative optical media density to yield qAF. Texture factor (TF) was calculated to characterize inhomogeneities in the AF image and patients were assigned to the phenotypes of Fishman I through III.RESULTS. Quantified fundus autofluorescence in 36 of 42 patients and TF in 27 of 42 patients were above normal limits for age. Young patients exhibited the relatively highest qAF, with levels up to 8-fold higher than healthy eyes. Quantified fundus autofluorescence and TF were higher in Fishman II and III than Fishman I, who had higher qAF and TF than healthy eyes. Patients carrying the G1916E mutation had lower qAF and TF than most other patients, even in the presence of a second allele associated with severe disease.CONCLUSIONS. Quantified fundus autofluorescence is an indirect approach to measuring RPE lipofuscin in vivo. We report that ABCA4 mutations cause significantly elevated qAF, consistent with previous reports indicating that increased RPE lipofuscin is a hallmark of STGD1. Even when qualitative differences in fundus AF images are not evident, qAF can elucidate phenotypic variation. Quantified fundus autofluorescence will serve to establish genotype-phenotype correlations and as an outcome measure in clinical trials.