期刊
BRITISH JOURNAL OF OPHTHALMOLOGY
卷 101, 期 1, 页码 25-30出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/bjophthalmol-2016-308823
关键词
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资金
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust
- UCL Institute of Ophthalmology
- Fight For Sight (UK)
- Macular Society (UK)
- Moorfields Eye Hospital Special Trustees
- Moorfields Eye Charity
- Wellcome Trust [099173/Z/12/Z]
- Foundation Fighting Blindness (USA)
- Retinitis Pigmentosa Fighting Blindness
- FFB Career Development Award
- Austrian Science Fund (FWF) [J 3383-B23]
- Foundation Fighting Blindness Clinical Research Institute (USA)
- FFB Clinical Research Fellowship Program Award
- Ministry of Education, Culture, Sports, Science and Technology (Japan)
- National Hospital Organization Network Research Fund (Japan)
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.
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