Senses

Our Senses Special Interest Group is able to investigate areas of human eyes and ears health and disease. The group has a range of measures on our participants relating to eye and ear health, including parent reports of ear and hearing issues, middle year function (tympanometry) in childhood, eye screening at ages three and five years, and extensive eye examinations, including fundus photography, corneal topography, conjunctival UV autofluorescence (CUVAF) photography, measurement ocular biometry and several other tests in adulthood.

The Raine Study eyes and ear data is being used to better understand the long term developmental effects of otitis media and hearing loss on developmental outcomes (including language, behavioural and cognitive development), and to gather evidence on genetic and environmental risk factors associated with development and progression of many eye diseases including myopia, pterygium, strabismus, keratoconus and glaucoma.

SIG Leaders:

Dr Chris Brennan-Jones, Telethon Kids Institute

Dr Rob Eikelboom, Ear Science Institute of Australia

Prof David Mackey, Lions Eye Institute

Key findings over the last 30 years have included:

Using information from the Raine Study participants, researchers found genes related to middle ear infections, showed that over 25% of children had repeated middle year infections, and that having these infections in childhood seems to affect behavior later on in life. Researchers also showed that breastfeeding for longer than 6 months of age has a protective effect against these infections in children aged 3 years, which was not extended to older ages.

The Raine Study data, together with data from other groups of people, contributed to the identification different gene variants associated with different eyesight issues. Additionally, researchers showed that myopia (near sightedness) is largely determined by eye length and associated with time spent outdoors/sun exposure and Vitamin D.

26.8% of children in the Raine Study suffered recurrent otitis media (middle ear infections) and was the first study to provide information on how common this disease is in a general Australian paediatric population.   

  • Brennan-Jones CG, Whitehouse AJO, Park J, Hegarty M, Eikelboom RH, Swanepoel D, White JD, Jamieson SE. Prevalence and risk factors of parent-reported recurrent otitis media during early childhood in the Western Australian Pregnancy Cohort (Raine) Study. Journal of Paediatrics and Child Health 2015;51(4):403-9.

Predominant breastfeeding for >6 months is protective against otitis media in children at three years of age but the protective effect does not extend to children at six years of age, where other social and environmental factors may be stronger predictors of otitis media.   

  • Brennan-Jones CG, Eikelboom RH, Jacques A, Swanepoel D, Atlas MD, Whitehouse AJO, Jamieson SE, Oddy WH. Predominant breastfeeding for the first six months of life is protective against middle ear effusion in early childhood: a prospective birth cohort study. Clinical Otolaryngology 2017;42(1):26-37.

Middle year infections in childhood seem to affect later behavioural development.

  • Da Costa C, Eikelboom RH, Jacques A, Swanepoel W, Whitehouse AJO, Jamieson SE, Brennan-Jones CG. Does otitis media in early childhood affect later behavioural development? Results from the Western Australian Pregnancy Cohort (Raine) Study. Clinical Otolaryngology 2018;43(4):1036-42.

Different studies using the Raine Study data identified genes related to otitis media (middle year infection).

  • Rye MS, Wiertsema SP, Scaman ESH, Oommen J, Sun W, Francis RW, Ang W, Pennell CE, Burgner D, Richmond P, Vijayasekaran S, Coates HL, Brown SD, Blackwell JM, Jamieson SE. FBXO11, a regulator of the TGF[beta] pathway, is associated with severe otitis media in Western Australian children. Genes and Immunity 2011;12(5):352-9.
  • Rye MS, Blackwell JM, Jamieson SE. Genetic susceptibility to otitis media in childhood. The Laryngoscope. 2012;122(3):665-75.
  • Allen EK, Manichaikul A, Chen WM, Rich SS, Daly KA, Sale MM. Evaluation of replication of variants associated with genetic risk of otitis media. PLoS ONE. 2014;9(8):e104212.
  • Rye MS, Scaman ES, Thornton RB, Vijayasekaran S, Coates HL, Francis RW, Pennell CE, Blackwell JM, Jamieson SE. Genetic and functional evidence for a locus controlling otitis media at chromosome 10q26.3. BMC Medical Genetics 2014;15(1):15-18.

Along with data from some other groups of people, different gene variants were found to be associated with eyesight issues.

  • Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, et al. Genome-Wide Meta-Analyses of Multiancestry Cohorts Identify Multiple New Susceptibility Loci for Refractive Error and Myopia. Nature Genetics 2013;45(3):314–8.
  • Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Hohn R, Khor CC, Cooke Bailey JN, et.al. Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. Genetic Epidemiology 2015;39(3):207-16.
  • Shah RL, Li Q, Zhao W, Tedja MS, Tideman JWL, Khawaja AP, Fan Q, Yazar S et al A genome-wide association study of corneal astigmatism: The CREAM Consortium. Molecular Vision 2018;24:127-42.

Eye length is a major determinant of myopia (near sightedness).

  • Cheng CY, Schache M, Ikram MK, et al. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics 2013;93(2):264-77.

Young adults with myopia had lower vitamin D levels. Vitamin D deficiency was also associated with a higher risk of myopia.

  • Yazar S, Hewitt AW, Black LJ, McKnight CM, Mountain JA, Sherwin JC, … Mackey DA. Myopia is associated with lower vitamin D status in young adults. Investigative Ophthalmology & Visual Science 2014; 55(7):4552–59.

There is a relationship between myopia (near sightedness) and time spent outdoors.

  • McKnight CM, Sherwin JC, Yazar S, Forward H, Tan AX, Hewitt AW, Pennell CE et al. Myopia in young adults is inversely related to an objective marker of ocular sun exposure: The Western Australian Raine Cohort Study. American Journal of Ophthalmology 2014;158(5):1079–85.e2.

Sun exposure is associated with different eye issues, such as myopia and pterygium.

  • McKnight CM, Sherwin JC, Yazar S, Forward H, Tan AX, Hewitt AW, Pennell CE, McAllister IL, Young TL, Coroneo MT, Mackey DA. Myopia in young adults is inversely related to an objective marker of ocular sun exposure: the Western Australian Raine cohort study. American Journal of Ophthalmology 2014;158(5):1079-85.
  • McKnight CM, Sherwin JC, Yazar S, Forward H, Tan AX, Hewitt AW, Smith E, Turton D, Byrd P, Pennell CE, Coroneo MT, Mackey DA. Pterygium and conjunctival ultraviolet autofluorescence in young Australian adults: the Raine study. Clinical & Experimental Ophthalmology 2015;43(4

“The Raine Study has helped us understand young eyes better. We have discovered the strong relationship between spending less time outside and short sightedness; the gene variants associated with intraocular pressure and damage to the optic nerve and their relationship to glaucoma; rates of pterygium caused by excessive sun exposure; the association between lower Vitamin D levels and myopia in young adults; and new gene variants associated with refractive error, axial length and corneal thickness.”

Prof David Mackey, Lions Eye Institute.

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