Abstract：
Stargardt\'s disease (STGD1) is caused by mutations in the ABCA4 gene. Different lesions characterised by decreased autofluorescence levels are found in fundus autofluorescence (FAF) from STGD1 patients and could be used as outcome indicators for disease progression. We investigated the fate of foci with reduced autofluorescence (FRA) within the heterogeneous background of STGD1 patients using FAF imaging. Genetically confirmed STGD1 patients presenting heterogeneous background autofluorescence on high-quality FAF images at a minimum of two visits at least 12 months apart were chosen. A grid centred on the fovea was used to define five different zones. Within each zone, five FRA were randomly selected for each eye. The eccentricity of foci was determined at different time points for each patient. Analysis of 175 randomly chosen FRA showed consistent centrifugal displacement over time, most notably in eyes showing areas with definitely decreased autofluorescence. Interestingly, FRA did not leave an area of hypo-autofluorescence on FAF in locations where they were previously located. These findings may help to better understand STGD1 progression, improve FAF interpretation, and shed light on the nature of heterogeneous background.
摘要：
Stargardt病（STGD1）是由ABCA4基因突变引起的。在STGD1患者的眼底自发荧光（FAF）中发现了以自发荧光水平降低为特征的不同病变，可用作疾病进展的结果指标。我们使用FAF成像研究了STGD1患者异质背景下自发荧光（FRA）减少的病灶的命运。选择经遗传证实的STGD1患者，在至少间隔至少12个月的两次访问中，在高质量的FAF图像上表现出异质背景自发荧光。以中央凹为中心的网格用于定义五个不同的区域。在每个区域内,每只眼睛随机选择5只FRA。在每个患者的不同时间点确定病灶的偏心率。对175个随机选择的FRA的分析显示，随着时间的推移，离心位移一致，最值得注意的是在眼睛中显示出明显减少的自发荧光区域。有趣的是,FRA没有在FAF上先前位于的位置留下低自发荧光区域。这些发现可能有助于更好地了解STGD1进展，改进FAF解释，并阐明了异质背景的性质。
