Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, characterised by bilateral progressive central vision loss and subretinal deposition of lipofuscin-like substances. Recent advances in molecular diagnosis and therapeutic options are complemented by the increasing recognition of new multimodal imaging biomarkers that may predict genotype and disease progression. Unique non-invasive imaging features of STDG1 are useful for gene variant interpretation and may even provide insight into the underlying molecular pathophysiology. In addition, pathognomonic imaging features of STGD1 have been used to train neural networks to improve time efficiency in lesion segmentation and disease progression measurements. This review will discuss the role of key imaging modalities, correlate imaging signs across varied STGD1 presentations and illustrate the use of multimodal imaging as an outcome measure in determining the efficacy of emerging STGD1 specific therapies.

中文翻译：

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Stargardt 病：多模态成像：综述


Stargardt 病 (STGD1) 是一种常染色体隐性遗传性视网膜营养不良，其特征是双侧进行性中央视力丧失和脂褐素样物质的视网膜下沉积。人们对可预测基因型和疾病进展的新型多模态成像生物标志物的认识不断增强，补充了分子诊断和治疗方案的最新进展。 STDG1 独特的非侵入性成像特征有助于解释基因变异，甚至可以深入了解潜在的分子病理生理学。此外，STGD1 的特征成像特征已用于训练神经网络，以提高病变分割和疾病进展测量的时间效率。这篇综述将讨论关键成像模式的作用，关联不同 STGD1 表现的成像征象，并说明使用多模式成像作为确定新兴 STGD1 特异性疗法疗效的结果指标。