Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large ABCA4 gene (OMIM 601691). Major advances in understanding both the clinical and molecular features, as well as the underlying pathophysiology, have culminated in many completed, ongoing and planned human clinical trials of novel therapies. The aims of this concise review are to describe (1) the detailed phenotypic and genotypic characteristics of the disease, multimodal imaging findings, natural history of the disease, and pathogenesis, (2) the multiple avenues of research and therapeutic intervention, including pharmacological, cellular therapies and diverse types of genetic therapies that have either been investigated or are under investigation and (3) the exciting novel therapeutic approaches on the translational horizon that aim to treat STGD1 by replacing the entire 6.8 kb ABCA4 open reading frame. No data are available.

中文翻译：

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Stargardt 黄斑营养不良和治疗方法

Stargardt 黄斑营养不良（Stargardt 病；STGD1；OMIM 248200）是最常见的遗传性黄斑营养不良。STGD1 是一种常染色体隐性遗传疾病，由大 ABCA4 基因 (OMIM 601691) 中的多个致病序列变异引起。在理解临床和分子特征以及潜在的病理生理学方面取得的重大进展最终导致了许多已完成、正在进行和计划中的新疗法的人体临床试验。这篇简明综述的目的是描述（1）疾病的详细表型和基因型特征、多模态成像结果、疾病的自然史和发病机制，（2）研究和治疗干预的多种途径，包括药理学、已经研究或正在研究的细胞疗法和多种类型的基因疗法；(3) 转化领域令人兴奋的新颖治疗方法，旨在通过替换整个 6.8 kb ABCA4 开放阅读框来治疗 STGD1。无可用数据。