Journal article
Prevalence of FOXC1 Variants in Individuals with a Suspected Diagnosis of Primary Congenital Glaucoma
OM Siggs, E Souzeau, F Pasutto, A Dubowsky, JEH Smith, D Taranath, J Pater, JL Rait, A Narita, L Mauri, A Del Longo, A Reis, A Chappell, LS Kearns, SE Staffieri, JE Elder, JB Ruddle, AW Hewitt, KP Burdon, DA Mackey Show all
JAMA Ophthalmology | AMER MEDICAL ASSOC | Published : 2019
Abstract
Importance: Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly in individuals with variants in FOXC1 or PITX2 genes associated with Axenfeld-Rieger syndrome, makes it more difficult to diagnose patients with milder phenotypes. These cases are occasionally classified and managed as primary congenital glaucoma. Objective: To investigate the prevalence of FOXC1 variants in participants with a suspected diagnosis of primary congenital glaucoma. Design, Setting, and Participants: Australian and Italian cohorts were recruited from Januar..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by the National Health and Medical Research Council (grant 1023911, a Postgraduate Research Scholarship [Dr Staffieri], a Senior Research Fellowship [Dr Burdon], and a Practitioner Fellowship [Dr Craig]), the Channel 7 Children's Research Foundation, and an Operational Infrastructure Support grant from the Victorian Government (Centre for Eye Research Australia).