Inherited Ocular Disease in the New Zealand Māori: Novel Genetic Mechanisms and Founder Effects

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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


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