Now showing items 1-5 of 5
Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma
PURPOSE To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases. DESIGN A ...
Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma
(Association for Research in Vision and Ophthalmology, 2015-08)
PURPOSE: Myocilin (MYOC) is a well-established primary open-angle glaucoma (POAG) risk gene, with rare variants known to have high penetrance. The most common clinically relevant risk variant, Gln368Ter, has an allele ...
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma
(Molecular Vision, 2015-02-11)
Purpose: To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New ...
A large genome-wide association study of age-related macular degeneration highlights contribution of rare and common variants
(Nature Publishing Group, 2015-12-21)
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, ...
A common variant near TGFBR3 is associated with primary open angle glaucoma
(Oxford University Press, 2015)
Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution.We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with ...