Now showing items 1-10 of 45
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 ...
A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma
(Emory Eye Centre, 2012)
Purpose: To investigate the underlying genetic variation between candidate genes and primary angle closure glaucoma (PACG) in both Nepalese and Australian populations. Methods: A total of 213 patients with PACG (106 Nepalese ...
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12
(American Medical Association, 2014)
IMPORTANCE: Nanophthalmos is a congenital disorder characterized by small eyes, with the main complications being severe hyperopia and angle-closure glaucoma. OBJECTIVE: To perform a clinical and genetic investigation ...
Association of eNOS polymorphisms with primary angle-closure glaucoma
(Association for Research in Vision and Ophthalmology, 2013-03)
Purpose: Recently, several studies have investigated genetic associations between Cytochrome P450 (CYP1B1), Endothelial nitric oxide synthase (eNOS) and Neurotrophin-4 (NTF4) with primary angle-closure glaucoma (PACG) in ...
Higher prevalence of Myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry
The prevalence of Myocilin mutations in glaucoma cases with severe visual field loss is significantly greater than in nonadvanced glaucoma patients. Myocilin screening in phenotypically selected cases can have a much higher ...
Association of genetic variants with primary angle closure glaucoma in two different populations
(Public Library of Science, 2013)
PURPOSE: A recent large genome-wide association study (GWAS) identified multiple variants associated with primary angle-closure glaucoma (PACG). The present study investigated the role of these variants in two cohorts ...
TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases
(Public Library of Science, 2017-08-23)
Fuchs’ endothelial corneal dystrophy (FECD) is a progressive, vision impairing disease. Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 ...
Genetic study of Diabetic Retinopathy: recruitment methodology and analysis of baseline characteristics
BACKGROUND: Diabetic retinopathy (DR) is a blinding disease of increasing prevalence, caused by a complex interplay of genetic and environmental factors. Here we describe the patient recruitment methodology, case and control ...
Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma
(Association for Research in Vision and Ophthalmology (ARVO), 2016)