Mackey, DA and Sherwin, JC and Kearns, LS and Ma, Y and Kelly, J and Chu, B and MacMillan, R and Barbour, JM and Wilkinson, CH and Matovinovic, E and Cox, HC and Bellis, C and Lea, RA and Quinlan, S and Griffiths, LR and Hewitt, AW, The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (Biometry of the Bounty), Twin Research and Human Genetics, 14, (1) pp. 42-52. ISSN 1832-4274 (2011) [Refereed Article]
Copyright 2011 Australian Academic Press Pty Ltd.
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.
|Item Type:||Refereed Article|
|Keywords:||ophthalmology, glaucoma, genetics, genome-wide association, population isolates, mutiny, Bounty, Pitcairn Island|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Mackey, DA (Professor David Mackey)|
|Author:||Hewitt, AW (Professor Alex Hewitt)|
|Web of Science® Times Cited:||8|
|Deposited By:||Medicine (Discipline)|
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