Now showing items 11-20 of 36
Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals.
(American Academy of Ophthalmology, 2016-12-16)
Angiopoietin-1 is required for Schlemm’s canal development in mice and humans
(American Society for Clinical Investigation, 2017-11)
Primary congenital glaucoma (PCG) is a leading cause of blindness in children worldwide and is caused by developmental defects in 2 aqueous humor outflow structures, Schlemm’s canal (SC) and the trabecular meshwork. We ...
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants
(Nature Publishing Group, 2017-05-17)
Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals ...
Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign
(ARVO Journals, 2018-02-15)
Purpose: Leukocoria is the most common presenting sign for pediatric eye disease including retinoblastoma and cataract, with worse outcomes if diagnosis is delayed. We investigated whether individuals could identify ...
Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma
(Association for Research in Vision and Ophthalmology (ARVO), 2016)
Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets
(Investigative Ophthalmology and Visual Science, 2018-02)
Purpose: Sex hormones may be associated with primary open-angle glaucoma (POAG), although the mechanisms are unclear. We previously observed that gene variants involved with estrogen metabolism were collectively associated ...
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity
(American Society for Clinical Investigation, 2016)
Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated ...
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
(Springer Nature, 2018-07-27)
Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide. Both IOP and POAG are highly heritable. We report a combined ...
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
(BMJ Publishing Group - http://bjo.bmjjournals.com/, 2005-07)
AIMS: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus ...
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration
(Nature Publishing Group, 2016)
Primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD) are leading causes of irreversible blindness. Several loci have been mapped using genome-wide association studies. Until very recently, there ...