April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Variation in the L and M cone opsin genes as a causative factor in myopia
Author Affiliations & Notes
  • Jessica Kate Mountford
    Animal Biology, University of Western Australia, Perth, WA, Australia
    UWA Oceans Institute, University of Western Australia, Perth, WA, Australia
  • Wayne I Davies
    Animal Biology, University of Western Australia, Perth, WA, Australia
    UWA Oceans Institute, University of Western Australia, Perth, WA, Australia
  • John N De Roach
    Australian Inherited Retinal Disease Register and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia
  • Terri L McLaren
    Australian Inherited Retinal Disease Register and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia
  • Tina M Lamey
    Australian Inherited Retinal Disease Register and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia
  • David A Mackey
    Lions Eye Institute, University of Western Australia, Centre for Ophthalmology and Visual Science, Perth, WA, Australia
  • David M Hunt
    Animal Biology, University of Western Australia, Perth, WA, Australia
    UWA Oceans Institute, University of Western Australia, Perth, WA, Australia
  • Footnotes
    Commercial Relationships Jessica Mountford, None; Wayne Davies, None; John De Roach, None; Terri McLaren, None; Tina Lamey, None; David Mackey, None; David Hunt, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 1350. doi:
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    • Get Citation

      Jessica Kate Mountford, Wayne I Davies, John N De Roach, Terri L McLaren, Tina M Lamey, David A Mackey, David M Hunt; Variation in the L and M cone opsin genes as a causative factor in myopia. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1350.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: A sequence variation in the L cone opsin gene has been shown to underlie an X-linked form of cone dysfunction that presents with red-green color blindness and myopia (Bornholm Eye Disease). This raises the possibility that other forms of myopia may also be associated with changes in the L and M opsin genes. The objective of this study was to determine the extent of L and M opsin gene variation and to assess the role of such variants in the onset of myopia.

Methods: Isolated genomic DNA was obtained with informed consent from male participants recruited from three study groups, the Norfolk Island Eye Study, the Raine Eye Health Study and the Australian Inherited Retinal Disease Register. Myopia was defined as <=-3 Diopters. L and M opsin genes were amplified using long range PCR, followed by the individual amplification and sequencing of exons 2-5.

Results: Sequencing analysis revealed a number of previously unreported variants that were common to either both normal and myopic groups (8 homozygous, 18 heterozygous), or unique to myopic subjects (2 homozygous, 31 heterozygous). Five cases displayed novel haplotypes involving exons 4 and 5, but none had the BED haplotype.

Conclusions: This study re-enforces the variability within the L and M opsin array on the X chromosome, and identifies variants that may be involved in the causation of common myopia, and in the development of other disorders. Further functional analyses are required to determine the mechanism of action of such changes.

Keywords: 605 myopia • 470 color pigments and opsins • 537 gene screening  
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