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Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells of the optic nerve. Around 60% of ADOA cases are linked to mutations in the OPA1 gene. OPA1 is a fission-fusion protein involved in mitochondrial inner membrane remodelling. ADOA presents with marked(More)
BACKGROUND To review visual acuity outcomes from paediatric traumatic cataract and examine the mechanisms by which they occur. METHODS A retrospective review of paediatric patients (aged less than 18 years) who underwent lens surgery following ocular trauma, between 1992 and 2006 at the Royal Children's Hospital and Royal Victorian Eye and Ear Hospital in(More)
Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations in many different genes lead to congenital cataract. Recently, mutations in the receptor tyrosine kinase gene, EPHA2, have been found to cause congenital cataract in six different families. Although these findings have established EPHA2 as a(More)
Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry(More)
Strabismus represents a complex oculomotor disorder characterized by the deviation of one or both eyes and poor vision. A more sophisticated understanding of the genetic liability of strabismus is required to guide searches for associated molecular variants. In this classical twin study of 1,462 twin pairs, we examined the relative influence of genes and(More)
AIM To determine the incidence and predictors of glaucoma following surgery for congenital and infantile cataract in an Australian population. DESIGN Retrospective cohort study. PARTICIPANTS Infants (<12 months) having had lens extraction between January 1992 and May 2006, from two tertiary referral centres. METHODS Children with uveitis, anterior(More)
BACKGROUND To develop, implement and evaluate a telemedicine model to reduce glaucoma blindness through the early detection of undiagnosed glaucoma in high-risk individuals. DESIGN Prospective study, private ophthalmology practice and public outpatient clinics in Tasmania. PARTICIPANTS One hundred and thirty-three individuals with primary open-angle(More)
BACKGROUND   To characterize the clinical and genetic abnormalities within two Australian pedigrees with high incidences of retinal detachment and visual disability. DESIGN   Prospective review of two extended Australian pedigrees with high rates of retinal detachment. PARTICIPANTS   Twenty-two family members from two extended Australian pedigrees with(More)
OBJECTIVE This study aimed to describe tumour identification on magnetic resonance imaging (MRI) in a 35-week fetus with familial retinoblastoma (RB) and report the use of prenatal ultrasound (US) and MRI screening in the management of fetuses at high risk of RB. METHOD This is a retrospective review of the prenatal course and immediate postnatal findings(More)
BACKGROUND Amblyopia is a common neurodevelopmental disorder of vision that is characterised by visual impairment in one eye and compromised binocular visual function. Existing evidence-based treatments for children include patching the nonamblyopic eye to encourage use of the amblyopic eye. Currently there are no widely accepted treatments available for(More)