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Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma


Souzeau, E and Glading, J and Ridge, B and Wechsler, D and Chehade, M and Dubowsky, A and Burdon, KP and Craig, JE, Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma, Clinical Genetics, 88, (6) pp. 584-588. ISSN 1399-0004 (2015) [Refereed Article]

Copyright Statement

Copyright 2015 John Wiley & Sons

DOI: doi:10.1111/cge.12558


Myocilin glaucoma is an autosomal dominant disorder leading to irreversible blindness, but early intervention can minimize vision loss and delay disease progression. The purpose of this study was to discuss the benefits of predictive genetic testing in minors for Myocilin mutations associated with childhood onset glaucoma. Three families with Myocilin mutations associated with an age of onset before 18 years and six unaffected at-risk children were identified. Predictive genetic testing was discussed with the parents and offered for at-risk minors. Parents opted for genetic testing in half of the cases. None carried the familial mutation. The age of disease onset in the family, the severity of the condition, and the age of the child are all factors that appear to influence the decision of the parent to test their children. Predictive genetic testing for early onset Myocilin glaucoma can facilitate early detection of disease or discharge from routine ophthalmic examinations.

Item Details

Item Type:Refereed Article
Keywords:genetic counseling, glaucoma, minor, myocilin, predictive genetic testing
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:99163
Year Published:2015
Web of Science® Times Cited:8
Deposited By:Menzies Institute for Medical Research
Deposited On:2015-03-16
Last Modified:2017-11-06

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