Abstract: There are many advantages to understanding the genetics of human disease. Genetic markers can be used to calculate the risk of developing a disease, and elucidation of genetic risk factors can pinpoint the molecular aetiology of disease, which can facilitate the development of targeted therapies. Diabetic retinopathy (DR) is a common complication of diabetes that has a significant impact on quality of life. It has a clear genetic component, but determination of the genetic risk factors has proven difficult. To date, genome-wide studies for DR have been conducted on relatively small patient cohorts compared to other complex eye diseases and replication of genetic findings has been limited. The disease is highly heterogeneous, confounding attempts to classify patients into appropriate groups for genetic analysis and making direct comparisons between studies challenging. Future studies to determine the genetic causes of DR will need to focus on larger sample sizes, detailed phenotyping and appropriate classification of patients. Global co-operation and meta-analyses combining data from multiple studies will be critical to the discovery of genetic risk loci for DR.

Abstract: Myopia in children remains a major public health problem worldwide, especially in some Asian countries such as China, Singapore and Japan. Although many interventions have been attempted, few has been proven to be effective in controlling onset and progression of myopia in children. Environmental factors, genetic susceptibility or ethnic differences can affect the efficacy of these interventions. However, many questions remain unclear and even controversial for controlling myopia. China has the biggest population with myopia, especially for children myopia. Thus, it is of importance to present what achievements Chinese scientists have made in the field of myopia control in children. We summarize the current findings on myopia control in children from the Anyang Childhood Eye Study, including epidemiological data, clinical trials, systematic reviews and meta-analyses, and compare them with studies in other countries to find potential clues for controlling myopia in children.

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: Between 2011 and 2013, two large-scale cohort epidemiology studies were launched in Shanghai: the SCALE study, which aimed to provide ocular public health services to cover the entire youth population in Shanghai, and the SCES, which was based on sample surveys and aimed to provide information on the prevalence and incidence of visual impairment and different types of refractive errors. A total of 910,245 children and adolescents were finally enrolled in the SCALE study; three possible methods for monitoring refractive error without mydriasis were tested, and the agreement between the refractive outcomes of three commonly used autorefractors were examined to ensure the accuracy of the results of the SCALE study. A total of 8,627 children were enrolled in the SCES, and the baseline prevalence of different refractive errors, different behaviors associated with 1 year myopic shifts, and the different patterns of 2-year myopia progression between internal migrant and local resident school children have been analyzed. In some subset samples of the SCALE study and the SCES, several refraction components such as choroidal thickness (ChT) and crystalline lens power were also measured, to further elucidate the relationships between the refraction components and myopia as well as the mechanism of myopia incidence and development. The three methods used in Shanghai to prevent and intervene with childhood myopia: increasing outdoor time, low concentration atropine, and use of orthokeratology lens are also addressed in this review.

Background: The ORVIS infrastructure aims to facilitate the development and availability of valid and adapted tools that will allow functional, perceptual, cognitive and psychological evaluation of low vision clients by researchers and clinicians who work in low vision and visual impairment rehabilitation.

Methods: The tools developed or documented within ORVIS Infrastructure are tests or questionnaires which allow, or will allow to assess—in an accurate and reliable manner—characteristics related to visual impairment. The tools in development are: (I) questionnaire de repérage des hallucinations visuelles liées au syndrome de Charles-Bonnet (QR-SCB); (II) repérage des personnes agées présentant des INDices de déficience VISUELle (IndiVisuel); (III) mesure de l’impact de la déficience visuelle dans les activités quotidiennes (MIDVAQ) and (IV) M’EYE read test. The directory documents 14 tools and offers—within a descriptive sheet—characteristics, components and metrological properties as supported by cited scientific studies.

Results: The ORVIS Infrastructure, which aims at the development and availability of assessment tools, fills researchers’ and clinicians’ needs for measurement tools that are valid, effective and appropriate for use with a visually impaired clientele. Such tools are, especially in French, little known and hard to find, and represent a precious resource for those who want to evaluate the efficacy of treatments or interventions.

Conclusions: ORVIS is available at www.orvis.vision. Between November 2015 and September 2017, the directory has been accessed 1,383 times by 952 unique visitors.

Background: (I) To describe the development and components of the automobile simulator driving behavior evaluation system developed by CRIR-Institut Nazareth et Louis-Braille; (II) to present the preliminary results of the content evaluation of the driving behavior evaluation grid.

Methods: The evaluation system consists of five components: (I) the VS500M Car Simulator (Virage Simulation); (II) four VS500M driving scenarios, modified to minimize the occurrence of simulator sickness and expose subjects to commonly encountered driving situations on highways and city boulevards; (III) the Tobii Pro Glasses 2 eye tracking device; (IV) a car simulator driving behavior observation grid (DBOG); (V) a software application used during the behaviour evaluation phase, where synchronized video tracking, certain data from the simulator (e.g., speed) and the DBOG grid are presented. Initially, the expected safe driving behaviors were identified, including 235 of a visual nature, supported by literature data and consultation of the project steering committee and an expert in driving assessment. Driving behaviors were assessed in 22 subjects without visual impairment (mean age 55±20 years). Subsequently, the items were revised to determine their relevance based on their importance in terms of road safety or on the frequency with which behaviors were observed among participants. For analysis purpose, the items of the DBOG were grouped according to their content, by type of expected driving behavior (e.g., following a stop, look to the left and right before crossing the intersection) or element to be detected (e.g., pedestrians).

Results: Some visual behaviors are difficult to observe with the eye tracker device because they are more dependent on peripheral than central vision. Others are rarely observed, possibly because they are little or not realized in daily life or the representation of reality on the simulator does not stimulate their adoption. On the other hand, the visual detection behaviors expected in a situation where safety can be compromised are mostly carried out (e.g., detection of oncoming vehicles, side mirror verification when changing lanes).

Conclusions: This first phase of the study has made possible to better target the items to be kept in the car simulator driving behavior observation grid, and those that will have to be removed as they are too difficult to observe or too rarely adopted by the participants. Content validity and inter-rater reliability will be assessed from the simplified grid.

Background: Because of its superficial anatomical localization, the cornea is particularly vulnerable to abrasive forces and various traumas, which can lead to significant visual impairments. Upon injury of the corneal epithelium, there are important changes that occur in the composition of the underlying extracellular matrix (ECM). Those changes are perceived by the integrins that recognize the ECM components as their ligand and activate different intracellular signalling pathways, ultimately leading to reepithelialisation and reorganization of the injured epithelium, both of which are necessary in order to restore the visual properties of the cornea. The goal of this study was to analyse the impact of the pharmacological inhibition of specific signal transduction mediators of integrin-dependant signalling pathways on corneal wound healing using both monolayers of hCECs and tissue-engineered human corneas (hTECs) as in vitro models.

Methods: hTECs were produced by the self-assembly approach and wounded with a 8-mm diameter biopsy punch. Total RNA and proteins were isolated from the wounded and unwounded hTECs to conduct gene profiling analyses and protein kinase arrays. The wounded tissues were then incubated with the WNK1 inhibitor WNK463 and wound healing was monitored over a period of 6 days. Control corneas were incubated with the vehicle alone (DMSO). The impact of WNK1 inhibition on hCECs monolayers was determined using a scratch wound assay.

Results: Gene profiling analyses and protein kinases arrays revealed important alterations in the expression and activity of several mediators from the integrin-dependent signalling pathways in response to the ECM changes taking place during corneal wound healing. Among these, WNK1 is considerably activated through phosphorylation during corneal wound healing. The pharmacological inhibition of WNK1 by WNK463 significantly reduced the dynamic of corneal wound closure in our hTECs and hCECs monolayers compared to their respective negative controls.

Conclusions: These results allowed the identification of WNK1 kinase as an important player for a proper healing of the cornea. Also, these results allowed for a better understanding of the cellular and molecular mechanisms involved in corneal wound healing and they may lead to the identification of new therapeutic targets in the field of corneal wounds.