June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Incidence and de-novo mutation rate of Marfan syndrome and risk of ectopia lentis
Author Affiliations & Notes
  • Ricky Cui
    Mayo Clinic, Rochester, Minnesota, United States
  • Nancy Diehl
    Mayo Clinic, Rochester, Minnesota, United States
  • Brian Mohney
    Mayo Clinic, Rochester, Minnesota, United States
  • Footnotes
    Commercial Relationships   Ricky Cui, None; Nancy Diehl, None; Brian Mohney, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 179. doi:
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      Ricky Cui, Nancy Diehl, Brian Mohney; Incidence and de-novo mutation rate of Marfan syndrome and risk of ectopia lentis. Invest. Ophthalmol. Vis. Sci. 2017;58(8):179.

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

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Abstract

Purpose : There are no known epidemiological data for Marfan syndrome from the United States and only 5 reports published worldwide. The purpose of this retrospective, observational clinical study was to investigate the incidence and de-novo mutation rate of Marfan syndrome and the risk for developing ectopia lentis.

Methods : The medical records of all patients newly diagnosed with Marfan syndrome in Olmsted County, Minnesota, from January 1, 1976, through December 31, 2005, were retrospectively reviewed. The Ghent criteria were used for clinical diagnosis of Marfan syndrome and genetic testing was offered for confirmation.

Results : Marfan syndrome was identified in 17 patients during the 30-year period, yielding an incidence of 0.52 per 100,000 people per year (95% CI, 0.27-0.77). The mean age at diagnosis was 24 years (range, 1 year to 51 years) and 9 (52.9%) were female. Five (29.4%) of the 17 were considered new mutations with a calculated mutation rate of 3.8 ± 1.7 x 10-5. Four (23.5%) were diagnosed with ectopia lentis, including 3 at the time of their Marfan diagnosis. Of the 14 patients at risk for developing ectopia lentis after being diagnosed with Marfan syndrome, 1 (7.1%) developed it during a mean follow-up of 9 years (range, 0 to 26 years). Twelve (70.5%) of the 17 were diagnosed with a dilated ascending aorta during a mean follow-up of 11 years (range, 6 months to 29 years).

Conclusions : The incidence and de-novo mutation rate of Marfan syndrome in this population-based cohort was higher than prior reports. The prevalence of ectopia lentis, not previously reported, occurred in approximately one-fourth of the study patients, and more commonly around the time of the initial Marfan diagnosis.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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