Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

Author:

Siggs Owen M.1,Souzeau Emmanuelle1,Pasutto Francesca2,Dubowsky Andrew3,Smith James E. H.456,Taranath Deepa1,Pater John1,Rait Julian L.78,Narita Andrew9,Mauri Lucia10,Del Longo Alessandra11,Reis André2,Chappell Angela1,Kearns Lisa S.78,Staffieri Sandra E.7812,Elder James E.1213,Ruddle Jonathan B.7812,Hewitt Alex W.7814,Burdon Kathryn P.114,Mackey David A.1415,Craig Jamie E.1

Affiliation:

1. Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia

2. Institute of Human Genetics, Friedrich-Alexander–Universität Erlangen-Nürnberg, Erlangen, Germany

3. SA Pathology, Flinders Medical Centre, Adelaide, Australia

4. Department of Ophthalmology, Children’s Hospital at Westmead, Sydney, Australia

5. Discipline of Ophthalmology, University of Sydney, Sydney, Australia

6. Department of Ophthalmology, Macquarie University, Sydney, Australia

7. Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia

8. Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Australia

9. Geelong Eye Centre, Geelong, Australia

10. Medical Genetics Unit, Department of Laboratory Medicine, l’Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda, Milan, Italy

11. Pediatric Ophthalmology Unit, l’Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda, Milan, Italy

12. Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Australia

13. Department of Paediatrics, University of Melbourne, Melbourne, Australia

14. Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia

15. Centre for Ophthalmology and Visual Science and Lions Eye Institute, University of Western Australia, Perth, Australia

Publisher

American Medical Association (AMA)

Subject

Ophthalmology

Reference29 articles.

1. Glaucoma.;Quigley;Lancet,2011

2. The British Infantile and Childhood Glaucoma (BIG) eye study.;Papadopoulos;Invest Ophthalmol Vis Sci,2007

3. Primary infantile glaucoma in an Australian population.;MacKinnon;Clin Exp Ophthalmol,2004

4. Epidemiology and genetics of primary congenital glaucoma in Slovakia: description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance.;Gencík;Dev Ophthalmol,1989

5. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.;Plásilová;J Med Genet,1999

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