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

Journal article


Publication Details

Author(s): 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
Journal: JAMA Ophthalmology
Publication year: 2019
Volume: 137
Journal issue: 4
Pages range: 348-355
ISSN: 2168-6165
eISSN: 2168-6173


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.


External institutions with authors

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


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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Last updated on 2019-29-04 at 08:53