Zinkernagel, Martin; MacLaren, Robert E (2015). Recent advances and future prospects in choroideremia. Clinical ophthalmology, 9, pp. 2195-2200. Dove Medical Press 10.2147/OPTH.S65732
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OPTH-65732-the-genetics-of-choroideremia--future-prospects_112315.pdf - Published Version Available under License Creative Commons: Attribution-Noncommercial (CC-BY-NC). Download (1MB) | Preview |
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.
Item Type: |
Journal Article (Review Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ophthalmology |
UniBE Contributor: |
Zinkernagel, Martin Sebastian |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1177-5467 |
Publisher: |
Dove Medical Press |
Language: |
English |
Submitter: |
Sebastian Wolf |
Date Deposited: |
24 Feb 2016 15:54 |
Last Modified: |
14 Jan 2024 00:44 |
Publisher DOI: |
10.2147/OPTH.S65732 |
PubMed ID: |
26648685 |
Uncontrolled Keywords: |
choroideremia; clinical trials; gene replacement therapy; retinal imaging |
BORIS DOI: |
10.7892/boris.75867 |
URI: |
https://boris.unibe.ch/id/eprint/75867 |
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