Recent advances and future prospects in choroideremia

Martin S Zinkernagel,1,2 Robert E MacLaren3,41Department of Ophthalmology, 2Department of Clinical Research, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland; 3Nuffield Laboratory of Ophthalmology, University of Oxford and Oxford Eye Hospital, Oxford University NHS Tr...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Zinkernagel MS, MacLaren RE
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2015
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/b7f5ed9d6b8e45fd9a20dbb0562649ad
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:b7f5ed9d6b8e45fd9a20dbb0562649ad
record_format	dspace
spelling	oai:doaj.org-article:b7f5ed9d6b8e45fd9a20dbb0562649ad2021-12-02T04:10:48ZRecent advances and future prospects in choroideremia1177-5483https://doaj.org/article/b7f5ed9d6b8e45fd9a20dbb0562649ad2015-11-01T00:00:00Zhttps://www.dovepress.com/recent-advances-and-future-prospects-in-choroideremia-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Martin S Zinkernagel,1,2 Robert E MacLaren3,41Department of Ophthalmology, 2Department of Clinical Research, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland; 3Nuffield Laboratory of Ophthalmology, University of Oxford and Oxford Eye Hospital, Oxford University NHS Trust NIHR Biomedical Research Centre, Oxford, UK; 4Moorfields Eye Hospital NIHR Biomedical Research Centre, London, UKAbstract: Choroideremia is a complex and rare disease that is frequently misdiagnosed due to its similar appearance to classic retinitis pigmentosa. Recent advances in genetic testing have identified specific genetic mutations in many retinal dystrophies, and the identification of the mutation of the CHM gene on the X chromosome 25 years ago has paved the way for gene replacement therapy with the first human trials now underway. This article reviews the epidemiological and pathological features of choroideremia and new prospects in imaging to monitor disease progression, as well as potential treatment approaches for choroideremia.Keywords: choroideremia, gene replacement therapy, retinal imaging, clinical trialsZinkernagel MSMacLaren REDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2015, Iss default, Pp 2195-2200 (2015)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Zinkernagel MS MacLaren RE Recent advances and future prospects in choroideremia
description	Martin S Zinkernagel,1,2 Robert E MacLaren3,41Department of Ophthalmology, 2Department of Clinical Research, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland; 3Nuffield Laboratory of Ophthalmology, University of Oxford and Oxford Eye Hospital, Oxford University NHS Trust NIHR Biomedical Research Centre, Oxford, UK; 4Moorfields Eye Hospital NIHR Biomedical Research Centre, London, UKAbstract: Choroideremia is a complex and rare disease that is frequently misdiagnosed due to its similar appearance to classic retinitis pigmentosa. Recent advances in genetic testing have identified specific genetic mutations in many retinal dystrophies, and the identification of the mutation of the CHM gene on the X chromosome 25 years ago has paved the way for gene replacement therapy with the first human trials now underway. This article reviews the epidemiological and pathological features of choroideremia and new prospects in imaging to monitor disease progression, as well as potential treatment approaches for choroideremia.Keywords: choroideremia, gene replacement therapy, retinal imaging, clinical trials
format	article
author	Zinkernagel MS MacLaren RE
author_facet	Zinkernagel MS MacLaren RE
author_sort	Zinkernagel MS
title	Recent advances and future prospects in choroideremia
title_short	Recent advances and future prospects in choroideremia
title_full	Recent advances and future prospects in choroideremia
title_fullStr	Recent advances and future prospects in choroideremia
title_full_unstemmed	Recent advances and future prospects in choroideremia
title_sort	recent advances and future prospects in choroideremia
publisher	Dove Medical Press
publishDate	2015
url	https://doaj.org/article/b7f5ed9d6b8e45fd9a20dbb0562649ad
work_keys_str_mv	AT zinkernagelms recentadvancesandfutureprospectsinchoroideremia AT maclarenre recentadvancesandfutureprospectsinchoroideremia
_version_	1718401394915934208

Recent advances and future prospects in choroideremia

Ejemplares similares