Now showing items 1-5 of 5
Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian family
Congenital cataract is a heterogeneous disorder causing severe visual impairment in affected children. We screened four South Australian families with autosomal dominant congenital cataract for mutations in 10 crystallin ...
Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment
Glaucoma is a sight-threatening disease affecting 3% of the population over the age of 50. Glaucoma is treatable, and severe vision loss can usually be prevented if diagnosis is made at an early stage. Genetic factors play ...
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterisation of the protein in the eye
(Association for Research in Vision and Ophthalmology, 2012-06-06)
Purpose. Glaucoma is the leading cause of irreversible blindness worldwide. Primary open angle glaucoma (POAG) is the most common subtype. We recently reported association of genetic variants at chromosomal loci, 1q24 and ...
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 ...
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma
(Emory Eye Centre, 2012-12-28)
Purpose: To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations. Methods: Family members ...