March 2012
Volume 53, Issue 14
ARVO Annual Meeting Abstract  |   March 2012
Genetic Testing for Myotonic Dystrophy in Early-onset Cataract - 10 years data
Author Affiliations & Notes
  • Shiao Wei wong
    OPHTHALMOLOGY, NHS, Aberdeen, United Kingdom
  • Footnotes
    Commercial Relationships  Shiao Wei wong, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 5643. doi:
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      Shiao Wei wong; Genetic Testing for Myotonic Dystrophy in Early-onset Cataract - 10 years data. Invest. Ophthalmol. Vis. Sci. 2012;53(14):5643.

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

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Purpose: : To find out whether patients aged ≤ 60 years presenting with cataract should undergo genetic screening test for myotonic dystrophy

Methods: : This is ten-year retrospective study from January 2001 to December 2010. Data was collected from genetics database for the Northeast Scotland region.All patients with unilateral or bilateral cataract between age of 18 and 60 years and patients with cataracts characteristic of myotonic dystrophy were included in this study.Patients with complicated cataract or cataracts which were related to trauma, uveitis, type I diabetes mellitus, oral or topical steroids were excluded from this study

Results: : A total of 302 patients were tested for the mutation. Fourteen patients were tested positive (4.64%). None of the patients tested positive was above the age of 55 years.

Conclusions: : There is a high incidence of gene mutation (4.64%) in our region which warrants genetic testing for patients with early onset cataract.Genetic testing can be targeted to patients under the age of 55 years.

Keywords: gene screening • cataract 

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