Abstract: Acute retinal arterial ischemia, which includes transient monocular vision loss (TMVL), branch retinal artery occlusion (BRAO), central retinal artery occlusion (CRAO) and ophthalmic artery occlusion (OAO), is most commonly the consequence of an embolic phenomenon from the ipsilateral carotid artery, heart or aortic arch, leading to partial or complete occlusion of the central retinal artery (CRA) or its branches. Acute retinal arterial ischemia is the ocular equivalent of acute cerebral ischemia and is an ophthalmic and medical emergency. Patients with acute retinal arterial ischemia are at a high risk of having further vascular events, such as subsequent strokes and myocardial infarctions (MIs). Therefore, prompt diagnosis and urgent referral to appropriate specialists and centers is necessary for further work-up (such as brain magnetic resonance imaging with diffusion weighted imaging, vascular imaging, and cardiac monitoring and imaging) and potential treatment of an urgent etiology (e.g., carotid dissection or critical carotid artery stenosis). Since there are no proven, effective treatments to improve visual outcome following permanent retinal arterial ischemia (central or branch retinal artery occlusion), treatment must focus on secondary prevention measures to decrease the likelihood of subsequent ischemic events.

Abstract: Optical coherence tomography (OCT) is an ocular imaging technique that can complement the neuro-ophthalmic assessment, and inform our understanding regarding functional consequences of neuroaxonal injury in the afferent visual pathway. Indeed, OCT has emerged as a surrogate end-point in the diagnosis and follow up of several demyelinating syndromes of the central nervous system (CNS), including optic neuritis (ON) associated with: multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and anti-myelin oligodendrocyte glycoprotein (MOG) antibodies. Recent advancements in enhanced depth imaging (EDI) OCT have distinguished this technique as a new gold standard in the diagnosis of optic disc drusen (ODD). Moreover, OCT may enhance our ability to distinguish cases of papilledema from pseudopapilledema caused by ODD. In the setting of idiopathic intracranial hypertension (IIH), OCT has shown benefit in tracking responses to treatment, with respect to reduced retinal nerve fiber layer (RNFL) measures and morphological changes in the angling of Bruch’s membrane. Longitudinal follow up of OCT measured ganglion cell-inner plexiform layer thickness may be of particular value in managing IIH patients who have secondary optic atrophy. Causes of compressive optic neuropathies may be readily diagnosed with OCT, even in the absence of overt visual field defects. Furthermore, OCT values may offer some prognostic value in predicting post-operative outcomes in these patients. Finally, OCT can be indispensable in differentiating optic neuropathies from retinal diseases in patients presenting with vision loss, and an unrevealing fundus examination. In this review, our over-arching goal is to highlight the potential role of OCT, as an ancillary investigation, in the diagnosis and management of various optic nerve disorders.

Abstract: Myasthenia gravis (MG) is an autoimmune antibody-mediated disorder which causes fluctuating weakness in ocular, bulbar and limb skeletal muscles. There are two major clinical types of MG. Ocular MG (OMG) affects extra ocular muscles associated with eye movement and eyelid function and generalized MG results in muscle weakness throughout the body. Patients with OMG have painless fluctuating extra ocular muscles weakness, diplopia and ptosis accompanied by normal visual acuity and pupillary function. Frequently, patients with OMG develop generalized MG over 24 months. Pure OMG is more often earlier in onset (<45 years) than generalized MG. It can also occur as part of an immune-genetic disorder or paraneoplastic syndrome related to thymus tumors. Diagnosis is based on clinical manifestations, laboratory findings, electrophysiological evaluation and pharmacologic tests. Therapeutic strategies for MG consist of symptom relieving medications (e.g., acetylcholine esterase inhibitors), immunosuppressive agents, and surgical intervention (e.g., thymectomy).

Background: With a large portion of older adults living longer, the number of individuals diagnosed with low vision is increasing. The use of optical coherence tomography/scanning laser ophthalmoscope (OCT/SLO) to diagnose retinal disease has become common place in the last 10 years, yet currently there are no OCT/SLO databases for pathological vision. Our aim is to develop a clinical database of individuals who have drusen (i.e., lipid deposits found under the retina), or have been diagnosed with age-related macular degeneration (AMD), with information as to how the structure of the diseased retina changes over time, as well as measures of visual and cognitive functional performance.

Methods: Fundus photographs and retinal scans will be taken using the same model of optos OCT/SLO located in three test sites (MAB-Mackay Rehabilitation Centre, School of Optometry Clinic at the University of Montreal, and the Lighthouse Institute, New York, USA). For each individual entry in the database, demographic and diagnosis information will be available. All OCT/SLO images will be graded according to the Age-related Eye Disease Study standard, in addition to number and size of drusen, severity of geographic atrophy, severity of pigment mottling and presence of choroidal neovascularization. Retinal topography and Raster scans from the OCT/SLO will provide a cross-sectional look at affected retinas. Fixation stability will be recorded using the SLO function, and present four different tasks that are designed to reproduce typical tasks of daily vision, with each task lasting for 10 seconds. The tasks are cross fixation, face recognition, visual search, and reading. These tasks in addition to the retinal scans will be used to determine the eccentricity of a preferred retinal locus from the anatomical fovea, and can be used as an outcome measure for clinical interventions in visually impaired patients.

Results: The database will be available to professors training eye-care practitioners and rehabilitation specialists as a teaching tool. Students will be able to familiarize themselves with the retina and a variety of AMD-related pathologies before they start working with patients. The database will also be accessible by researchers interested in studying AMD from basic science to epidemiology, to investigate how drusen and AMD impact visual and cognitive functional performance.

Conclusions: The common infrastructure is easily accessible to all VHRN members on request. The database will also be accessible online in 2018 (see http://cvl.concordia.ca for more information).

Background: Epidermolysis bullosa (EB) is a heterogynous group of skin disorders characterized by formation of blisters and erosions of the skin in response to minor trauma. Subtypes include EB simplex (EBS), junctional EB (JEB), dystrophic form of EB (DEB) and finally Kindler syndrome (KS). In addition to dermal manifestation, patients can present with various ophthalmic pathologies.

Methods: We reviewed the pathobiology, epidemiology and management of ocular manifestations as well as current and future innovative therapies for EB.

Results: The severity and incidence of ocular involvement were the highest in the recessive DEB-generalized severe and JEB-generalized severe subtypes. Recurrent corneal erosions and blisters were the most common finding and seem to correlate with skin disease. Other manifestations include corneal scaring, blepharitis, ectropion, symblepharon, infantile cataracts, lacrimal duct obstruction as well as meibomian gland deficiency.

Conclusions: Ophthalmology consult as well as regular follow-up are essential in the multi-disciplinary approach of this disease. Indeed, parents’ and patients’ education as well as early diagnosis and treatment are crucial to prevent permanent and long-term visual disabilities.

Background: Perceptual profiles, or the performance on visual-perceptual tasks that reflect early visual information processing, have been used to suggest condition-specific visuo-perceptual abilities across neurodevelopmental conditions (NDCs). The complexity-specific hypothesis (Bertone et al., 2010) was based on perceptual profiles defined by a selective decrease in sensitivity to more complex, texture-defined information in adults with autism and fragile-x syndrome, suggesting the atypical development of neural networks underlying early perception in NDCs. The aim of this study was to evaluate whether the complexity-specific hypothesis is applicable to children and adolescents with different NDCs by defining and comparing their perceptual profiles.

Methods: A single interval, two alternative forced-choice identification paradigm was used to measure the perceptual profiles of 64 participants with a NDC (MIQ =78) and 43 typically developing (TD) participants (MIQ =103), aged 5 to 17 years. Participants with a NDC were diagnosed with either: autism spectrum disorder (ASD, n=32), attention deficit/hyperactivity disorder (ADHD, n=9), or intellectual disability (ID, n=12). Perceptual profiles were defined by measuring participants’ sensitivity to static (orientation identification task) and dynamic (direction identification task) gratings (1 cpd) defined by either luminance (simple) or texture (complex) information. The Weschler Abbreviated Scale of Intelligence 2 (WASI-2) was used as a measure of cognitive ability.

Results: When performance was averaged across NDC and TD participants, no between-group difference in sensitivity was found for any of the conditions assessed. However, when assessed as a function of diagnosis, we found that the ID group was less sensitive to both the luminance (P=0.04) and texture-defined (P=0.01) dynamic information when compared to the TD group. Notably, although the perceptual profile of the ASD group was similar of that of the TD group, a significant positive relationship between mental age and sensitivity to both texture-defined static (r=?0.5) and dynamic (r=?0.4) information was found.

Conclusions: The ?ndings demonstrate that different conditions-specific perceptual profiles exist across children and adolescents with different types of NDCs, exemplified by differences found in this study for the ID group. In addition, the positive relationship between perceptual performance and mental age within the ASD group suggests that these perceptual abilities may still be undergoing maturation during the age-range assessed, and provides support for the complexity-specific hypothesis specific to the ASD profile during development. These results exemplify the importance of defining perceptual profiles at different periods of development across NDCs, since the tenets of most perceptually-relevant cognitive theories are based primarily on adult data.

Abstract: Pediatric neuro-ophthalmology is a subspecialty within neuro-ophthalmology. Pediatric neuro-ophthalmic diseases must be considered separate from their adult counterparts, due to the distinctive nature of the examination, clinical presentations, and management choices. This manuscript will highlight four common pediatric neuro-ophthalmic disorders by describing common clinical presentations, recommended management, and highlighting recent developments. Diseases discussed include pediatric idiopathic intracranial hypertension (IIH), pseudopapilledema, optic neuritis (ON) and optic pathway gliomas (OPG). The demographics, diagnosis and management of common pediatric neuro-ophthalmic disease require a working knowledge of the current research presented herein. Special attention should be placed on the differences between pediatric and adult entities such that children can be appropriately diagnosed and treated.