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

Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, Del Longo A, Reis A, Chappell A, Kearns LS, Staffieri SE, Elder JE, Ruddle JB, Hewitt AW, Burdon KP, Mackey DA, Craig JE (2019)

Publication Type: Journal article

Publication year: 2019

Journal

JAMA Ophthalmology American Medical Association

Book Volume: 137

Pages Range: 348-355

Journal Issue: 4

DOI: 10.1001/jamaophthalmol.2018.5646

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.

Authors with CRIS profile

Francesca Pasutto Institute of Human Genetics André Wiesmann da Silva Reis Lehrstuhl für Humangenetik

Involved external institutions

The Royal Victorian Eye and Ear Hospital AU Australia (AU) Flinders University AU Australia (AU) Westmead Hospital AU Australia (AU) University of Tasmania (UTAS) AU Australia (AU) Flinders Medical Centre AU Australia (AU) Royal Children's Hospital Parkville AU Australia (AU) Geelong Eye Centre AU Australia (AU)

How to cite

APA:

Siggs, O.M., Souzeau, E., Pasutto, F., Dubowsky, A., Smith, J.E.H., Taranath, D.,... Craig, J.E. (2019). Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. JAMA Ophthalmology, 137(4), 348-355. https://dx.doi.org/10.1001/jamaophthalmol.2018.5646

MLA:

Siggs, Owen M., et al. "Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma." JAMA Ophthalmology 137.4 (2019): 348-355.

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