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

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, an...

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Autores principales: Tanna, Preena, Strauss, Rupert W, Fujinami, Kaoru, Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5256119/
https://www.ncbi.nlm.nih.gov/pubmed/27491360
http://dx.doi.org/10.1136/bjophthalmol-2016-308823
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author Tanna, Preena
Strauss, Rupert W
Fujinami, Kaoru
Michaelides, Michel
author_facet Tanna, Preena
Strauss, Rupert W
Fujinami, Kaoru
Michaelides, Michel
author_sort Tanna, Preena
collection PubMed
description 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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spelling pubmed-52561192017-01-25 Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options Tanna, Preena Strauss, Rupert W Fujinami, Kaoru Michaelides, Michel Br J Ophthalmol Review 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. BMJ Publishing Group 2017-01 2016-08-04 /pmc/articles/PMC5256119/ /pubmed/27491360 http://dx.doi.org/10.1136/bjophthalmol-2016-308823 Text en Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ 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/
spellingShingle Review
Tanna, Preena
Strauss, Rupert W
Fujinami, Kaoru
Michaelides, Michel
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
title Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
title_full Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
title_fullStr Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
title_full_unstemmed Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
title_short Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
title_sort stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5256119/
https://www.ncbi.nlm.nih.gov/pubmed/27491360
http://dx.doi.org/10.1136/bjophthalmol-2016-308823
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