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dc.contributor.authorSouzeau, Emmanuelle
dc.contributor.authorGlading, Jodi
dc.contributor.authorRidge, Bronwyn
dc.contributor.authorWechsler, David
dc.contributor.authorChehade, Mark
dc.contributor.authorDubowsky, Andrew
dc.contributor.authorBurdon, Kathryn Penelope
dc.contributor.authorCraig, Jamie E
dc.date.accessioned2016-01-28T04:52:18Z
dc.date.available2016-01-28T04:52:18Z
dc.date.issued2015-01-28
dc.identifier.citationSouzeau, E., Glading, J., Ridge, B., Wechsler, D., Chehade, M., Dubowsky, A., Burdon, K.P. and Craig, J.E. (2015), Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma. Clinical Genetics, 88: 584–588. doi: 10.1111/cge.12558en
dc.identifier.issn0009-9163
dc.identifier.urihttp://hdl.handle.net/2328/35899
dc.descriptionAuthor manuscript made available following 12 month embargo from date of publication (28 Jan 2015) in accordance with publisher copyright policy.en
dc.description.abstractMyocilin 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.en
dc.language.isoen
dc.publisherJohn Wiley & Sons, inc.en
dc.relationhttp://purl.org/au-research/grants/nhmrc/1023911en
dc.rightsCopyright © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltden
dc.titlePredictive genetic testing in minors for Myocilin juvenile onset open angle glaucomaen
dc.typeArticleen
dc.relation.grantnumberNHMRC/1023911en
dc.identifier.doihttps://doi.org/10.1111/cge.12558en
dc.rights.holderJohn Wiley & Sons A/S. Published by John Wiley & Sons Ltden
dc.rights.licenseIn Copyright


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