Tanna, P;
Strauss, RW;
Fujinami, K;
Michaelides, M;
(2017)
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
British Journal of Ophthalmology
, 101
(1)
pp. 25-30.
10.1136/bjophthalmol-2016-308823.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1136/bjophthalmol-2016-308823 |
| Publisher version: | http://doi.org/10.1136/bjophthalmol-2016-308823 |
| Language: | English |
| Additional information: | This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/. |
| Keywords: | Dystrophy, Imaging, Retina |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1508914 |
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