Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Curr Opin Ophthalmol. 2021 May 1;32(3):214-224. doi: 10.1097/ICU.0000000000000750.
Stargardt disease is the most common inherited macular dystrophy but has a wide clinical spectrum, and several inherited macular dystrophies have phenotypic similarities that can make clinical diagnosis challenging. This review seeks to highlight key clinical and multimodal imaging features to aid clinicians in accurate diagnosis.
Multimodal imaging has provided additional information to aid in the diagnosis of Stargardt disease and its masquerades. These data from multimodal imaging are important to correlate with findings from clinical examination to help support the clinical diagnosis or guide molecular investigations.
This review highlights the key similarities and differences, in history, clinical examination and multimodal imaging, to help distinguish between Stargardt disease and other macular dystrophies. These findings can help direct a focused molecular analysis for accurate diagnosis, which is critical in the era of gene and stem cell therapies.
Stargardt 病是最常见的遗传性黄斑营养不良，但具有广泛的临床谱，并且几种遗传性黄斑营养不良具有相似的表型，这使得临床诊断具有挑战性。本综述旨在强调关键的临床和多模态成像特征，以帮助临床医生进行准确诊断。
多模态成像提供了额外的信息，以帮助诊断 Stargardt 病及其伪装。这些来自多模态成像的数据对于与临床检查结果相关联非常重要，有助于支持临床诊断或指导分子研究。
本综述强调了在病史、临床检查和多模态成像方面的主要相似性和差异，以帮助区分 Stargardt 病和其他黄斑营养不良。这些发现可以帮助指导进行有针对性的分子分析，以进行准确诊断，这在基因和干细胞治疗时代至关重要。
