Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
复制标题
Stargardt病：临床特征，分子遗传学，动物模型和治疗选择。
DOI：
10.1136/bjophthalmol-2016-308823
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发表时间：
2017-01
期刊：
影响因子：
--
通讯作者：
Michaelides M
中科院分区：
文献类型：
--
作者：
Tanna P;Strauss RW;Fujinami K;Michaelides M
Stargardt病(STGD1MIM 248200)是最常见的遗传性黄斑营养不良，与ABCA4基因的致病序列变异有关。在过去的10年里，在我们对 的临床和分子特征以及潜在的病理生理学的了解方面取得了重大进展，这最终导致了正在进行的和计划中的新疗法的人类临床试验。本综述的目的是描述该病的详细表型和基因特征，常规和新颖的影像表现，动物模型和发病机制的最新知识，以及正在探索的多种干预途径。
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention being explored.