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Ablepharon-macrostomia syndrome

The ablepharon-macrostomia syndrome is a very rare condition caused by a dominant mutation in the TWIST2 gene. Congenital defects include rudimentary eyelids, macrostomia, ambiguous genitalia and campodactyly. Neonates are at risk of severe corneal exposure without intervention. Previous reports have...

Surgical results in spinocerebellar ataxia (SCA)

Patients with SCA frequently develop ocular motility abnormalities including nystagmus, abnormal smooth pursuits, dysmetric saccades, divergence paresis and ophthalmoplegia. Incidence of diplopia is higher in SCA type 3. The purpose of this study was to evaluate surgical responses and outcomes...

Online retinoblastoma surveillance tool

Given the vision and life-threatening course of retinoblastoma (RB), it has become a significant heritable childhood cancer to screen for. To recommend surveillance, risk must be estimated and genetic testing plays a vital role. However, genetic tests vary based on...

Features of branchio-oculo-facial syndrome

Branchio-oculo-facial (BOF) syndrome is an autosomal dominant inherited syndrome that typically presents with branchial cleft sinus defects, ocular anomalies and dysmorphic facial appearance. The authors present a new case alongside the results of a literature review describing the common genetic...

Progression of macular atrophy in Stargardt disease

The authors present a study of a cohort of patients with genetically proven ABCA4 gene mutation related Stargardt disease. They aimed to quantify the effect of lesion location and topography on disease progression using fundus autofluorescence imaging. One hundred and...

Management of congenital NLD obstruction

The authors evaluated changes in management of congenital nasolacrimal duct obstruction (CNLDO) by surveying 1495 Association for Paediatric Ophthalmology & Strabismus (AAPOS) members. The survey consisted of 21 multiple choice questions with anonymised return. Responses were received from 127 members...

My top five: Innovative approaches to dry AMD

Age-related macular degeneration (AMD) is one of the leading causes of irreversible blindness in the developing world with its prevalence rising alongside age. In societies characterised by ageing populations, it is imperative we explore more effective treatment to alleviate the...

My Top Five: Innovative approaches to dry AMD

Age-related macular degeneration (AMD) is one of the leading causes of irreversible blindness in the developing world with its prevalence rising alongside age. In societies characterised by ageing populations, it is imperative we explore more effective treatment to alleviate the...

The AOP welcomes the extended rollout of the special schools eyecare service

The AOP responds to the announcement on sight tests in special schools.

Retinal Pharmacotherapeutics (Developments in Ophthalmology)

Retinal Pharmacotherapeutics is volume 55 in the ‘Developments in Ophthalmology’ series released by Karger. As the name of the series suggests it aims to explore current and future developments in retinal therapeutics. The book itself is split into six main...

Elevated risk of mood disorders after recurrent retinal detachment

This study was aimed to investigate the risk of mood disorders in patients who experienced retinal detachment (RD) by using the National Health Insurance Research Database in Taiwan. A total of 4129 participants diagnosed with RD and 16,516 non-RD individuals...

Changes in the prevalence of myopia in middle-aged caucasian Australians compared to UK biobank

This article compares rates of myopia and high myopia in large cohorts of caucasian Australians from the Busselton Healthy Ageing Study, the urban Gen1 of the Raine Study, the Blue Mountains Eye study and Melbourne Visual Impairment Project. The former...