Choroideremia: Update On Clinical Features And Emerging Treatments

Maria Brambati, Enrico Borrelli, Riccardo Sacconi, Francesco Bandello, Giuseppe Querques Ophthalmology Department, San Raffaele University Hospital, Milan, ItalyCorrespondence: Giuseppe QuerquesDepartment of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, ItalyTel +39022...

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Autores principales:	Brambati M, Borrelli E, Sacconi R, Bandello F, Querques G
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2019
Materias:	choroideremia heredodystrophies gene therapy clinical trials stem cells gene therapy small molecules retinal prothesis. Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/869708dcbb1d4bde8f0372da2a8f4955
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spelling	oai:doaj.org-article:869708dcbb1d4bde8f0372da2a8f49552021-12-02T10:42:06ZChoroideremia: Update On Clinical Features And Emerging Treatments1177-5483https://doaj.org/article/869708dcbb1d4bde8f0372da2a8f49552019-11-01T00:00:00Zhttps://www.dovepress.com/choroideremia-update-on-clinical-features-and-emerging-treatments-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Maria Brambati, Enrico Borrelli, Riccardo Sacconi, Francesco Bandello, Giuseppe Querques Ophthalmology Department, San Raffaele University Hospital, Milan, ItalyCorrespondence: Giuseppe QuerquesDepartment of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, ItalyTel +390226432648Fax +390226433643Email giuseppe.querques@hotmail.itAbstract: Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium and retina. This disease is caused by mutations in the X-linked CHM gene encoding a Ras-related GTPase Rab escort protein (REP)-1, which is extremely important for the retinal function. Clinically, male-affected patients have a progressive reduction in visual acuity. This disease is formally considered incurable, although new promising treatments have been recently introduced. In this article, a review of the salient pathogenetic features of choroideremia, essential for the proper interpretation of therapeutic approaches, is followed by a discussion of the fundamental clinical features of this hereditary disease. Finally, relevant new therapeutic approaches in this disease will be discussed, including gene therapy, stem cells, small molecules, and retinal prosthesis.Keywords: choroideremia, heredodystrophies, gene, therapy, clinical trials, stem cells, gene therapy, small molecules, retinal prosthesisBrambati MBorrelli ESacconi RBandello FQuerques GDove Medical Pressarticlechoroideremiaheredodystrophiesgenetherapyclinical trialsstem cellsgene therapysmall moleculesretinal prothesis.OphthalmologyRE1-994ENClinical Ophthalmology, Vol Volume 13, Pp 2225-2231 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	choroideremia heredodystrophies gene therapy clinical trials stem cells gene therapy small molecules retinal prothesis. Ophthalmology RE1-994
spellingShingle	choroideremia heredodystrophies gene therapy clinical trials stem cells gene therapy small molecules retinal prothesis. Ophthalmology RE1-994 Brambati M Borrelli E Sacconi R Bandello F Querques G Choroideremia: Update On Clinical Features And Emerging Treatments
description	Maria Brambati, Enrico Borrelli, Riccardo Sacconi, Francesco Bandello, Giuseppe Querques Ophthalmology Department, San Raffaele University Hospital, Milan, ItalyCorrespondence: Giuseppe QuerquesDepartment of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, ItalyTel +390226432648Fax +390226433643Email giuseppe.querques@hotmail.itAbstract: Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium and retina. This disease is caused by mutations in the X-linked CHM gene encoding a Ras-related GTPase Rab escort protein (REP)-1, which is extremely important for the retinal function. Clinically, male-affected patients have a progressive reduction in visual acuity. This disease is formally considered incurable, although new promising treatments have been recently introduced. In this article, a review of the salient pathogenetic features of choroideremia, essential for the proper interpretation of therapeutic approaches, is followed by a discussion of the fundamental clinical features of this hereditary disease. Finally, relevant new therapeutic approaches in this disease will be discussed, including gene therapy, stem cells, small molecules, and retinal prosthesis.Keywords: choroideremia, heredodystrophies, gene, therapy, clinical trials, stem cells, gene therapy, small molecules, retinal prosthesis
format	article
author	Brambati M Borrelli E Sacconi R Bandello F Querques G
author_facet	Brambati M Borrelli E Sacconi R Bandello F Querques G
author_sort	Brambati M
title	Choroideremia: Update On Clinical Features And Emerging Treatments
title_short	Choroideremia: Update On Clinical Features And Emerging Treatments
title_full	Choroideremia: Update On Clinical Features And Emerging Treatments
title_fullStr	Choroideremia: Update On Clinical Features And Emerging Treatments
title_full_unstemmed	Choroideremia: Update On Clinical Features And Emerging Treatments
title_sort	choroideremia: update on clinical features and emerging treatments
publisher	Dove Medical Press
publishDate	2019
url	https://doaj.org/article/869708dcbb1d4bde8f0372da2a8f4955
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Choroideremia: Update On Clinical Features And Emerging Treatments

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