Prevalence of FOXC1 variants in individuals with suspected diagnosis of primary congenital glaucoma
JAMA Ophthalmology Jan 21, 2019
Siggs OM, et al. - Australian and Italian cohorts were studied from January 1, 2007, to March 1, 2016, to examine the prevalence of FOXC1 variants in 131 candidates with a doubted diagnosis of primary congenital glaucoma. The mean (SD) age was 22.5 (18.4) years in the Italian cohort and 24.3 (18.1) years in the Australian cohort. Researchers noted 6.1% of the total cohort with predicted deleterious FOXC1 variants, or 4.8% when involving those illustrated by variants in CYP1B1. During re-examination, they recorded all the candidates with at least one detectable ocular and/or systemic feature related to Axenfeld-Rieger syndrome. They supported the utility of gene panels incorporating FOXC1 as a diagnostic aid because the data obtained highlighted the genetic and phenotypic heterogeneity of childhood glaucoma, especially in the precision of clinical features of Axenfeld-Rieger syndrome.
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