Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

被引：251

作者：

Tanna, Preena ^{[1
,2
]}

Strauss, Rupert W. ^{[1
,2
,3
,4
]}

Fujinami, Kaoru ^{[1
,2
,5
]}

Michaelides, Michel ^{[1
,2
]}

机构：

[1] UCL, UCL Inst Ophthalmol, London, England

[2] Moorfields Eye Hosp, London, England

[3] Med Univ Graz, Dept Ophthalmol, Linz, Austria

[4] Johannes Kepler Univ Linz, Linz, Austria

[5] Natl Hosp Org, Tokyo Med Ctr, Natl Inst Sensory Organs, Tokyo, Japan

来源：

BRITISH JOURNAL OF OPHTHALMOLOGY | 2017年 / 101卷 / 01期

基金：

奥地利科学基金会; 英国惠康基金;

关键词：

DYSTROPHY-FUNDUS FLAVIMACULATUS; EXTERNAL LIMITING MEMBRANE; RETINAL-PIGMENT EPITHELIUM; ABCA4; GENE; MACULAR DEGENERATION; VISUAL CYCLE; MOUSE MODEL; VITAMIN-A; GENOTYPE CORRELATIONS; REDUCED-ILLUMINANCE;

D O I：

10.1136/bjophthalmol-2016-308823

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：25 / 30

页数：6

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