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Four rectus muscle surgery for infantile nystagmus syndrome
The authors present a case report of infantile nystagmus syndrome (INS) with abnormal head posture (AHP) of face turn, head tilt and chin depression with a single-step surgery of all four horizontal rectus muscles. The case was a 26-year-old male...
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...
BT as a diagnostic tool in Duane’s retraction syndrome
This study evaluated the effects of botulinum-toxin (BT) on management of Duane’s retraction syndrome along with how BT can be used diagnostically to help with patient expectations and decide management. Functional and psychosocial impact of BT effect was evaluated in...
Should we be looking for anemia in the presence of papilloedema?
The authors present a retrospective case notes review of patients diagnosed with idiopathic intracranial hypertension (IIH) presenting to a tertiary neuro-ophthalmology clinic over a 32-month period. The IIH group were age and sex matched with other patients attending the clinic...
Acute comitant esotropia as the presenting sign of diffuse intrinsic pontine glioma
The authors present four children with acute comitant esotropia (AACE) associated with diffuse intrinsic pontine glioma. All were treated with radiation therapy and all subsequently died due to the tumour. Children were aged 5, 5, 4.5 and 11 years. General...
Extraocular muscle disinsertion outcomes for large angle strabismus
The authors present a case series of patients who underwent surgical extraocular muscle (EOM) disinsertion for severe cranial nerve palsy or thyroid eye disease including 12 patients (13 eyes: 10 male, three female). There was one bilateral case – bilateral...
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...
A review of neuro and retinal imaging findings in Alzheimer’s disease
The authors present a systematic review with the aim of assessing the relationship between retinal and cerebral changes in Alzheimer’s disease (AD), mild cognitive impairment and pre-clinical AD. A total of 23 articles met the inclusion criteria of the review,...
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...
Posterior circulation stroke associated demographics, risk factors and aetiology
The authors present a retrospective case notes review of patients diagnosed with homonymous hemianopia following a radiologically confirmed stroke. A total of 85 patients were identified by searching an electronic medical records system over an 11-year period. Data were extracted...
Use of oral fluorescein angiography in a paediatric population
The authors report a retrospective records review of all patients who received an oral ultrawide fluorescein angiography (FA) over a 42-month period at a single children’s hospital. Data were extracted from the records including indication for FA, adverse events, pauses...
