Literature DB >> 21314255

The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (biometry of the bounty).

David A Mackey1, Justin C Sherwin, Lisa S Kearns, Yaling Ma, John Kelly, Byoung-Sun Chu, Robert Macmillan, Julie M Barbour, Colleen H Wilkinson, Elizabeth Matovinovic, Hannah C Cox, Claire Bellis, Rod A Lea, Sharon Quinlan, Lyn R Griffiths, Alex W Hewitt.   

Abstract

AIM: To describe the recruitment, ophthalmic examination methods and distribution of ocular biometry of participants in the Norfolk Island Eye Study, who were individuals descended from the English Bounty mutineers and their Polynesian wives.
METHODS: All 1,275 permanent residents of Norfolk Island aged over 15 years were invited to participate, including 602 individuals involved in a 2001 cardiovascular disease study. Participants completed a detailed questionnaire and underwent a comprehensive eye assessment including stereo disc and retinal photography, ocular coherence topography and conjunctival autofluorescence assessment. Additionally, blood or saliva was taken for DNA testing.
RESULTS: 781 participants aged over 15 years were seen (54% female), comprising 61% of the permanent Island population. 343 people (43.9%) could trace their family history to the Pitcairn Islanders (Norfolk Island Pitcairn Pedigree). Mean anterior chamber depth was 3.32mm, mean axial length (AL) was 23.5mm, and mean central corneal thickness was 546 microns. There were no statistically significant differences in these characteristics between persons with and without Pitcairn Island ancestry. Mean intra-ocular pressure was lower in people with Pitcairn Island ancestry: 15.89mmHg compared to those without Pitcairn Island ancestry 16.49mmHg (P = .007). The mean keratometry value was lower in people with Pitcairn Island ancestry (43.22 vs. 43.52, P = .007). The corneas were flatter in people of Pitcairn ancestry but there was no corresponding difference in AL or refraction.
CONCLUSION: Our study population is highly representative of the permanent population of Norfolk Island. Ocular biometry was similar to that of other white populations. Heritability estimates, linkage analysis and genome-wide studies will further elucidate the genetic determinants of chronic ocular diseases in this genetic isolate.

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Year:  2011        PMID: 21314255     DOI: 10.1375/twin.14.1.42

Source DB:  PubMed          Journal:  Twin Res Hum Genet        ISSN: 1832-4274            Impact factor:   1.587


  5 in total

1.  Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size.

Authors:  Pik Fang Kho; Rodney A Lea; Miles C Benton; David Eccles; Larisa M Haupt; Alex W Hewitt; Justin C Sherwin; David A Mackey; Lyn R Griffiths
Journal:  J Hum Genet       Date:  2017-11-16       Impact factor: 3.172

2.  Intra-Ocular Pressure Measurement in a Patient with a Thin, Thick or Abnormal Cornea.

Authors:  Colin I Clement; Douglas G A Parker; Ivan Goldberg
Journal:  Open Ophthalmol J       Date:  2016-02-29

3.  Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age.

Authors:  Miles C Benton; Heidi G Sutherland; Donia Macartney-Coxson; Larisa M Haupt; Rodney A Lea; Lyn R Griffiths
Journal:  Aging (Albany NY)       Date:  2017-02-28       Impact factor: 5.682

4.  Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate.

Authors:  Miles C Benton; Rodney A Lea; Donia Macartney-Coxson; Heidi G Sutherland; Nicole White; Daniel Kennedy; Kerry Mengersen; Larisa M Haupt; Lyn R Griffiths
Journal:  Epigenetics Chromatin       Date:  2019-10-08       Impact factor: 4.954

5.  Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate.

Authors:  Elizabeth Matovinovic; Pik Fang Kho; Rodney A Lea; Miles C Benton; David A Eccles; Larisa M Haupt; Alex W Hewitt; Justin C Sherwin; David A Mackey; Lyn R Griffiths
Journal:  Mol Vis       Date:  2017-09-28       Impact factor: 2.711

  5 in total

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