May 2007
Volume 48, Issue 13
ARVO Annual Meeting Abstract  |   May 2007
Looking at the Slow Progress in Identification of Genes Responsible for High Myopia
Author Affiliations & Notes
  • Q. Zhang
    Zhongshan Ophthalmic Center, Sun Yat-Sen Univ, Guangzhou, China
  • Footnotes
    Commercial Relationships Q. Zhang, None.
  • Footnotes
    Support NSFC30572006, 863Z19-01-04-02
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 1320. doi:
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      Q. Zhang; Looking at the Slow Progress in Identification of Genes Responsible for High Myopia. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1320. doi:

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

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Purpose:: High myopia is a severe ocular condition affecting ~100 million people in the world and is the fourth most common cause of irreversible blindness. At least eight genetic loci (MYP1, MYP2, MYP3, MYP4, MYP5, MYP11, MYP12, and MYP13) have been mapped but no gene responsible for this disorder has been identified. The progress involving identification of high myopia gene is rather slow comparing with other genetic eye diseases. SNPs in several genes have been reported to be associated with high myopia but none of them has been repeated. In order to accelerate the identification of high myopia gene, it might be valuable to go over those mapped loci or associated SNPs and to discuss the problem and possible solution.

Methods:: Linkage and association studies based on additional Chinese families with high myopia were performed. Literature regarding high myopia linkage study and association study was reviewed.

Results:: Additional evidence of linkage analysis that supports previous mapped loci including MYP1 and MYP13. No evidence was found to support the association of high myopia with SNPs previously reported. Difference on setting of affection status was used by different groups.

Conclusions:: Clarifying genetic contribution on family high myopia may be more important than simply setting a quantitative boundary to define affection status. It will be problematic if the nature history of myopia development and phenocopy are not considered. The criteria for declaring genetic association are discussed concerning rapid increase of false positive reports.

Keywords: myopia • genetics • gene mapping 

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