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HSCT treatment outcomes for osteopetrosis
The purpose of this study was to objectively analyse changes in the optic canal opening and conductibility of the optic nerve following allogenic hematopoietic stem cell transplantation (HSCT) in patients with osteopetrosis. 3D CT imaging was used along with visual...
Outcome of nasolacrimal probing in older children
The authors aimed to determine the success of nasolacrimal duct obstruction (NLD) probing in a cohort of patients older than four years with simple membranous obstruction. Eighteen patients were included in this retrospective study aged 5.6 years on average (4.1-10.6)....
Using optical coherence tomography angiography to detect MoyaMoya vasculopathy
Moyamoya (MM) disease is a chronic cerebrovascular disease that can lead to progressive stenosis of the terminal portions of the internal carotid arteries and their proximal branches. The authors carried out a cross-sectional cohort study to investigate vascular changes in...
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...Sexually transmitted conjunctivitis – the REALLY sticky eye
Let’s face it, patients with conjunctivitis don’t always produce the most stimulating consultations and most of the time we can manage them in auto-pilot. The prospect of delving into such a patient’s sexual history is not overly appealing, but this...A paediatric case of central retinal artery occlusion following antibiotics and decompression surgery for orbital cellulitis
Orbital cellulitis is an ophthalmic emergency that warrants urgent management in the hospital setting [1]. This occurs more frequently in the paediatric population where it is often secondary to sinus infections. Delay in treatment could result in severe complications including...Feb/Mar 2014 Quiz 2
History A 65-year-old lady presented with a ten year history of nonspecific visual disturbance and mild symptoms of dry eyes. Questioning revealed progressive nyctalopia. Previous medical history of note included Crohn’s disease requiring two bowel resections including small intestine. Figure...
Gene therapy: perspectives from young adults with Leber’s congenital amaurosis
The authors present their telephone survey data of 10 patients with a mean age of 24.4 years regarding their opinion on gene therapy for their Leber’s congenital amaurosis. Patients were recruited at the Hospital for Sick Children, Toronto. Of the...
Comprehensive review of inherited retinal diseases
The authors offer an up-to-date review of inherited retinal diseases (IRDs). In each section the authors discuss the molecular basis of disease, genotype and clinical manifestation. They also discuss the investigation findings and current evidence in the treatment of the...Cavernous sinus syndrome
Anatomically the cavernous sinus is a plexus of multiple veins that are connected and within this plexus there are several important vascular and neurological structures. These include cranial nerves III, IV, V1 (and sometimes V2), VI as well as the...Acute dellen formation post trauma
Corneal dellen are saucer-like thinnings, usually of the peripheral cornea [1]. Dellen formation is thought to be related to localised tear film instability [2], specifically the absence of the mucin component of the tear film. Without the mucin layer, dry...
