Ophthalmology

Ophthalmology

 

The twenty year Raine Study follow up was conducted at the Lions Eye Institute and Sir Charles Gairdner Hospital by the Raine Study team, ophthalmologists, ophthalmology trainees, medical students, orthoptists, ophthalmic assistants and volunteers. This is one of the first studies to determine the prevalence and risk factors for eye disease in young adults, and to characterize ocular biometric parameters in a young adult cohort with myopia being the most common condition.1 Myopic participants also had significantly lower vitamin D levels.2 Whether higher vitamin D levels are protective against myopia or whether this is proxy for sun exposure and outdoor lifestyle needs to be determined.

 

Data from the Raine Study combined with genetic information allows the group to participate in multinational research consortia investigating eye development, the basis of colour vision, and numerous eye disorders. The design and methodology of the ophthalmic assessment allow comparison and replication of findings in other population-based studies of eye disease and cohort studies including the Twins Eye Study in Tasmania and the Brisbane Adolescent Twins Study. Through CREAM and IGGC consortia, the group identified multiple genes for keratoconus, glaucoma and myopia3,4 - an exciting breakthrough in our understanding of the pathogenesis of these important eye diseases. One of the aims of genetic research is to develop predictive testing to identify those who are at higher risk. The researchers have already started to calculate the genetic risk score for myopia (short-sightedness) based on the sum of effects of individual gene variations4 and they aim to apply this method to other eye diseases.

 

 The data from Raine Study not only enabled researchers to understand the disease pathogenesis but also generated some outcomes that may help clinicians in decision-making process. For example, the researchers identified that larger amount of optical deviations of light in Raine Study young adults compared to other cohorts despite the presence of good vision.5 This characteristic of ocular system is important for refractive surgery as well as for custom intraocular lens and contact lens design.

 

1. Yazar S, Forward H, McKnight CM, Tan A, Soloshenko A, Oates SK, Ang W, Sherwin JC, Wood D, Mountain JA, Pennell CE, Hewitt AW, Mackey DA. Raine eye health study: design, methodology and baseline prevalence of ophthalmic disease in a birth-cohort study of young adults. Ophthalmic Genet. 2013 Dec;34(4):199-208.

2.      Yazar S, Hewitt AW, Black LJ, McKnight CM, Mountain JA, Sherwin JC, Oddy WH, Coroneo M, Lucas RM, Mackey DA. Myopia is associated with lower vitamin D status in young adults. Invest Ophthalmol Vis Sci. 2014 Jun 26.

3.      Verhoeven VJ, Hysi PG, Hewitt AW, Pennell CE, N, Mackey DA, Young TL, et al. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet. 2013;45(3):314-8.

4.      Lu Y, Vitart V, Burdon KP, Khor CC, Hewitt AW, Mountain J, Ang W, Yazar S, Pennell C, , Hammond CJ, Van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, MacKey DA, Craig JE, MacGregor S, et al. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013 Feb;45(2):155-63.

5.      Yazar S, Hewitt AW, Forward H, McKnight CM, Tan A, Mountain JA, Mackey DA. Comparison of monochromatic aberrations in young adults with different visual acuity and refractive errors. J Cataract Refract Surg. 2014 Mar;40(3):441-9

 

Research Team

W/Professor David Mackey MBBS MD FRANZCO FRACS

Dr Alex Hewitt PhD MBBS

Seyhan Yazar M(Orth)

Lisa Kearns BOrthOphSci(Hons), GradDipGenCoun

Sandra Staffieri- BAppSci(orth)

Maria Franchina PhD MBBS

Paul Sanfillipo PhD

 

Dr Stuart Macgregor

Matthew Law

Puya Gharakhani

Queensland Institute for Medical Research, Queensland

 

Twin Eye Study in Tasmania (TEST)

Brisbane Adolescent Twin Study (BATS)

 

Dr Beate Glaser

Dr Jeremy Guggenheim

Cardiff University, UK

 

Joe Dennis

Centre for Cancer Genetic Epidemiology, University of Cambridge

 

Dr Cathy Williams

Dr Kate Northstone

University of Bristol, UK

 

Dr Mats Larsson

Orebro University, Sweden

 

Consortiums

CREAM consortium: Consortium on Refractive Error and Myopia

International Glaucoma Genetics Consortium

 

Students

  • Seyhan Yazar, PhD Candidate
  • Dr Charlotte McKnight, Masters Candidate
  • Dr Hannah Forward, Masters Candidate
  • Aniket Mishra, PhD Candidate (Brisbane)
  • Gabriel Cuellar Masters Candidate (Brisbane)

 

Grants Awarded

 

  • 2012-2014, NHMRC 1021105, D Mackey, C Pennell, A Hewitt, T Young, C Hammond, M Coreneo, S Macgregor. Genome-wide association study (GWAS) for juvenile-onset myopia and its component measures to identify molecular pathways to prevent myopia, $482,445. 
  • 2012-2013, NHMRC 1030148, D Hunt, D Mackey, Myopia and colour vision: potential impact of colour vision gene variation on susceptibility to myopia, $222,250. 
  • 2010, UWA Research Collaboration Awards, D Mackey, C William, J Guggenheim, Comparison & mutual replication studies between ALSPAC and Raine eye health Study using vision relation data, $11,000. 
  • 2011, Channel 7 Telethon Trust, D Mackey, GWAS analysis for Raine eye health Study, $95,625. 
  • 2011 Australian Foundation for the Prevention of Blindness. DA Mackey. The Raine Eye Health Study: An ophthalmic follow-up study of a longitudinal birth cohort at age 21 years, $44,906. 
  • 2011 Ophthalmic Research Institute of Australia, A Tan, CM McKnight, H Forward, Raine Eye Health Study: Ocular biometry and ultraviolet exposure, $50,000. 

 

Publications