UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

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

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. Green open access

[img]
Preview
Text
Michaelides_Br J Ophthalmol-2016-Tanna-bjophthalmol-2016-308823.pdf

Download (605kB) | Preview

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 > Provost and Vice Provost Offices
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: http://discovery.ucl.ac.uk/id/eprint/1508914
Downloads since deposit
119Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item