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Familial Mediterranean Fever and keratoconus
This retrospective case control study was conducted in the Genetic Diagnostic Centre in Turkey. It examined the prevalence of keratoconus in two groups; patients with Familial Mediterranean Fever (FMF) and age matched controls free of FMF, who were tested for...
Prognostic factors for visual acuity in patients with LHON after gene therapy
This retrospective study investigates prognostic factors affecting the visual acuity after a single intravitreal injection of rAAV2-ND4 gene therapy in 53 patients with Leber’s hereditary optic neuropathy (LHON) with mutation at site 11 778. Patients were reviewed one and three...
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...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...
Glaucoma surgery in Sturge-Weber syndrome
The authors report the largest retrospective study of surgical results of goniotomoy and trabeculectomy for 42 patients (46 eyes) with glaucoma associated with Sturge-Weber syndrome (SWS). There were 18 males and 24 females, and 62 goniotomy procedures (51 goniotomy surgery,...
Possible mechanism for infant development of secondary glaucoma
The authors consider published evidence with regard to potential causative mechanisms for secondary glaucoma that follows infant lensectomy. They review clinical and laboratory studies. The mechanism they propose is that the original lensectomy surgery releases immature anterior lens cells into...
