dc.contributor.author |
Vincent, Andrea |
en |
dc.contributor.editor |
Gyan, P |
en |
dc.contributor.editor |
Iwata, T |
en |
dc.date.accessioned |
2019-11-21T03:57:46Z |
en |
dc.date.issued |
2019 |
en |
dc.identifier.citation |
In Advances in Vision Research, Volume II Genetic Eye Research in Asia and the Pacific. Editors: Gyan P, Iwata T. 41-55. Springer Nature, Singapore 2019 |
en |
dc.identifier.isbn |
9811308845 |
en |
dc.identifier.isbn |
9789811308840 |
en |
dc.identifier.uri |
http://hdl.handle.net/2292/49011 |
en |
dc.description.abstract |
New Zealand is a small island nation at the bottom of the South Pacific, with a population of 4.7 million, and the largest Polynesian population in the world. 15% identify as Māori and 7% as Pacific peoples, and the spectrum of inherited eye disease encountered in this population varies from that seen in those identifying as NZ European. Keratoconus is more common, while primary open-angle glaucoma is rare. A number of founder pathogenic variants have been elucidated in autosomal recessive ectopia lentis, and a common PDE6B variant caused up to 16% of autosomal recessive inherited retinal disease in the Māori population. Although many of those with inherited retinal disease remain genetically uncharacterised, research to date shows a range of novel variants in many genes. Understanding the population-specific genetic disease spectrum and clinical phenotypes, as well as a knowledge of regional ancestry and iwi (tribe), aids in simplifying the diagnostic process. |
en |
dc.description.uri |
https://catalogue.library.auckland.ac.nz/permalink/f/t37c0t/uoa_alma51290717050002091 |
en |
dc.publisher |
Springer Nature |
en |
dc.relation.ispartof |
Advances in Vision Research, Volume II Genetic Eye Research in Asia and the Pacific |
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. |
en |
dc.rights.uri |
https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm |
en |
dc.rights.uri |
https://www.springer.com/gp/open-access/publication-policies/self-archiving-policy |
en |
dc.subject |
Medical |
en |
dc.title |
Inherited Ocular Disease in the New Zealand Māori: Novel Genetic Mechanisms and Founder Effects |
en |
dc.type |
Book Item |
en |
dc.identifier.doi |
10.1007/978-981-13-0884-0_5 |
en |
pubs.begin-page |
41 |
en |
dc.rights.holder |
Copyright: Springer Nature Singapore Pte Ltd. |
en |
pubs.author-url |
https://books.google.co.nz/books?id=mQ92DwAAQBAJ |
en |
pubs.end-page |
55 |
en |
pubs.place-of-publication |
Singapore |
en |
dc.rights.accessrights |
http://purl.org/eprint/accessRights/OpenAccess |
en |
pubs.elements-id |
784859 |
en |
pubs.org-id |
Medical and Health Sciences |
en |
pubs.org-id |
School of Medicine |
en |
pubs.org-id |
Ophthalmology Department |
en |
pubs.number |
5 |
en |
pubs.record-created-at-source-date |
2019-10-31 |
en |
pubs.online-publication-date |
2018-11-04 |
en |