dc.contributor.author |
Oliver, Verity |
en |
dc.contributor.author |
Vincent, Andrea |
en |
dc.date.accessioned |
2016-11-18T04:21:31Z |
en |
dc.date.issued |
2016-05-20 |
en |
dc.identifier.citation |
Asia-Pacific Journal of Ophthalmology 5(4):272-281 20 May 2016 |
en |
dc.identifier.issn |
2162-0989 |
en |
dc.identifier.uri |
http://hdl.handle.net/2292/31091 |
en |
dc.description.abstract |
Corneal dystrophies are a group of inherited disorders affecting the cornea, many of which lead to visual impairment. The International Committee for Classification of Corneal Dystrophies has established criteria to clarify the status of the various corneal dystrophies, which include the knowledge of the underlying genetics. In this review, we discuss the International Committee for Classification of Corneal Dystrophies category 1 (second edition) corneal dystrophies, for which a clear genetic link has been established. We highlight the various mechanisms underlying corneal dystrophy pathology, including structural disorganization, instability or maladhesion, aberrant protein stability and deposition, abnormal cellular proliferation or apoptosis, and dysfunction of normal enzymatic processes. Understanding these genetic mechanisms is essential for designing targets for therapeutic intervention, especially in the age of gene therapy and gene editing. |
en |
dc.format.medium |
Print-Electronic |
en |
dc.language |
eng |
en |
dc.publisher |
Lippincott, Williams & Wilkins |
en |
dc.relation.ispartofseries |
Asia-Pacific Journal of Ophthalmology |
en |
dc.rights |
Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. Details obtained from http://www.sherpa.ac.uk/romeo/issn/2162-0989/ |
en |
dc.rights.uri |
https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm |
en |
dc.title |
The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies: A Review |
en |
dc.type |
Journal Article |
en |
dc.identifier.doi |
10.1097/APO.0000000000000205 |
en |
pubs.issue |
4 |
en |
pubs.begin-page |
272 |
en |
pubs.volume |
5 |
en |
dc.description.version |
AM - Accepted Manuscript |
en |
dc.identifier.pmid |
27213768 |
en |
pubs.end-page |
281 |
en |
dc.rights.accessrights |
http://purl.org/eprint/accessRights/OpenAccess |
en |
pubs.subtype |
Article |
en |
pubs.elements-id |
528968 |
en |
pubs.org-id |
Medical and Health Sciences |
en |
pubs.org-id |
School of Medicine |
en |
pubs.org-id |
Ophthalmology Department |
en |
dc.identifier.eissn |
2162-0989 |
en |
pubs.record-created-at-source-date |
2016-11-18 |
en |
pubs.dimensions-id |
27213768 |
en |