June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
The myocilin GLN368Stop mutation in normal tension glaucoma
Author Affiliations & Notes
  • Carly Lewis
    Molecular Physiology & Biophysics, University of Iowa, Iowa City, Iowa, United States
    Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • Jason Kam
    Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States
    Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • Todd E Scheetz
    Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States
    Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • Ben R Roos
    Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States
    Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • Edwin M Stone
    Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States
    Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • Cheryl Khanna
    Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States
  • Kazuhide Kawase
    Ophthalmology, Gifu University Graduate School of Medicine, Gifu, Japan
  • Robert Ritch
    Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York , New York, United States
  • Andrew J Lotery
    Southampton General Hospital, Human Genetics Division, University of Southampton, Southampton, United Kingdom
  • Sobha Sivaprasad
    Moorfields Eye Hospital, London, United Kingdom
  • Jessica Cooke Bailey
    Case Western Reserve University, Cleveland, Ohio, United States
  • Louis R Pasquale
    Massachusetts Eye and Ear Infirmary, Harvard University, Boston, Massachusetts, United States
  • Janey L. Wiggs
    Massachusetts Eye and Ear Infirmary, Harvard University, Boston, Massachusetts, United States
  • Young H Kwon
    Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States
    Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • Wallace L M Alward
    Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States
    Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • John Fingert
    Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States
    Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States
  • Footnotes
    Commercial Relationships   Carly Lewis, None; Jason Kam, None; Todd Scheetz, None; Ben Roos, None; Edwin Stone, None; Cheryl Khanna, None; Kazuhide Kawase, None; Robert Ritch, None; Andrew Lotery, None; Sobha Sivaprasad, None; Jessica Cooke Bailey, None; Louis Pasquale, None; Janey Wiggs, None; Young Kwon, None; Wallace Alward, None; John Fingert, None
  • Footnotes
    Support  NIH Grant EY023512
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 2127. doi:
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    • Get Citation

      Carly Lewis, Jason Kam, Todd E Scheetz, Ben R Roos, Edwin M Stone, Cheryl Khanna, Kazuhide Kawase, Robert Ritch, Andrew J Lotery, Sobha Sivaprasad, Jessica Cooke Bailey, Louis R Pasquale, Janey L. Wiggs, Young H Kwon, Wallace L M Alward, John Fingert; The myocilin GLN368Stop mutation in normal tension glaucoma. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2127.

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

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Abstract

Purpose : To determine the role of the myocilin GLN368Stop mutation in normal tension glaucoma (i.e. primary open angle glaucoma that occurs at intraocular pressures <22 mm Hg). The GLN368Stop mutation is of particular interest because it is the most common known molecular cause of primary open angle glaucoma.

Methods : Cohorts of patients with normal tension glaucoma (n = 748) and control subjects (n = 1780) were tested for the most common myocilin mutation, GLN368Stop, which has been previously associated with glaucoma that occurs with high intraocular pressures (i.e. 30 mm Hg). The GLN368Stop mutation was assessed with either whole exome analyses or with quantitative real-time PCR. All positive results were confirmed with Sanger sequencing.

Results : Seven of 748 (0.94%) normal tension glaucoma patients and 7 of 1780 (0.39%) controls were found to have a GLN368Stop myocilin mutation. The GLN368Stop mutation was 2.4X more frequent in NTG patients than in control subjects, however, this difference was not statistically significant (p > 0.05).

Conclusions : Myocilin mutations have been previously associated with primary open angle glaucoma that occurs with high intraocular pressure. Our pilot study suggests that some cases of normal tension glaucoma may also be caused by myocilin mutations. A larger study with greater power will be necessary to determine if the GLN368Stop mutation is statistically associated with normal tension glaucoma.

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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