Publications by authors named "Sonya L Bennett"
Background/aims: Peripheral iridotomy (PI) may be required in subjects with uveitis to manage iris bombe, seclusio pupillae and primary angle closure glaucoma. The aim of this study was to identify risk factors for failure of both laser and surgical PIs in patients with uveitis and determine survival durations.
Methods: Retrospective study of subjects with a history of uveitis undergoing yttrium-aluminium-garnet (YAG) laser or surgical PI at Auckland District Health Board over an 11-year period.
Optic nerve assessment is important for many blinding diseases, with cup-to-disc ratio (CDR) assessments commonly used in both diagnosis and progression monitoring of glaucoma patients. Optic disc, cup, rim area and CDR measurements all show substantial variation between human populations and high heritability estimates within populations. To identify loci underlying these quantitative traits, we performed a genome-wide association study in two Australian twin cohorts and identified rs3858145, P=6.
View Article and Find Full Text PDFPurpose: Primary open angle glaucoma (POAG) is a complex heterogeneous disease. The aim of this study was to describe the POAG phenotype in individuals who harbour the novel GLC1L disease-associated haplotype in a large pedigree where the Myocilin Gln368STOP mutation also segregates.
Methods: The clinical findings from 24 subjects with POAG from the GTAS02 family recruited as part of the Glaucoma Inheritance Study of Tasmania (GIST) were compared relative to genotype status.
Purpose: Numerous genetic diseases and environmental stimuli affect optic nerve morphology. The purpose of this study was to identify the principal heritable components of visible optic nerve head structures in a population-based sample of twins.
Methods: Fifteen optic nerve specialists viewed stereoscopic optic nerve head photographs (Stereo Viewer-II; Pentax Corp.
Objective: To investigate whether structural differences of the optic nerve head are evident in young people who do not have manifest glaucoma but are known to carry myocilin mutations.
Methods: A case-control design was adopted. Subjects from Australian pedigrees known to have either the Gln368STOP myocilin mutation (cutoff age, <40 years) or the Thr377Met myocilin mutation (cutoff age, <30 years) were examined for signs of glaucoma.
Objective: To determine the phenotype of an Australian pedigree with the myocilin (MYOC) Gly252Arg mutation, comparing it with other pedigrees carrying the same mutation.
Methods: All recruited subjects underwent a comprehensive clinical examination, including optic disc assessment, applanation tonometry, and visual field measurement. Mutation analysis was performed through direct sequencing.
Purpose: Approximately 1 in 30 unselected patients with open-angle glaucoma (OAG) have a mutation in the myocilin gene. The purpose of this study was to describe the morphologic features of the optic nerve head (ONH) in myocilin glaucoma.
Methods: A case-control design was adopted.
Purpose: To describe the phenotype of an individual homozygous for the common Gln368STOP myocilin mutation and to discuss the other family members.
Design: Cascade screening was performed for Australian families that had been identified as having the myocilin Gln368STOP mutation.
Methods: Recruited subjects underwent comprehensive clinical examination and mutation analysis for the Gln368STOP myocilin mutation by direct sequencing.