"Blindness" is not a contraindication for voretigene neparvovec-rzyl treatment-a review of 9 cases.

Objective: Biallelic RPE65 pathogenic variants may cause Leber congenital amaurosis (LCA). Voretigene neparvovec-rzyl (VN, Luxturna) is the only approved subretinal gene therapy that demonstrated benefit and safety. The eligibility criteria are vague and variable between centres.

The role of artificial intelligence in macular hole management: A scoping review.

We focus on the utility of artificial intelligence (AI) in the management of macular hole (MH). We synthesize 25 studies, comprehensively reporting on each AI model's development strategy, validation, tasks, performance, strengths, and limitations. All models analyzed ophthalmic images, and 5 (20 %) also analyzed clinical features.

Optogenetics and Targeted Gene Therapy for Retinal Diseases: Unravelling the Fundamentals, Applications, and Future Perspectives.

With a common aim of restoring physiological function of defective cells, optogenetics and targeted gene therapies have shown great clinical potential and novelty in the branch of personalized medicine and inherited retinal diseases (IRDs). The basis of optogenetics aims to bypass defective photoreceptors by introducing opsins with light-sensing capabilities. In contrast, targeted gene therapies, such as methods based on CRISPR-Cas9 and RNA interference with noncoding RNAs (i.

Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.

Introduction: Choroideremia (CHM) is an X-linked inherited retinal disease mostly affecting males. However, women with phenotypic and/or genotypic evidence of CHM may develop degenerative visual disability with advancing age. Our objective was to determine the visual impacts of phenotypic and/or genotypic evidence of CHM in women and its associated psychosocial burden and influence on activities of daily living (ADLs).

Resting state electroretinography: An innovative approach to intrinsic retinal function monitoring.

The electroretinogram (ERG) represents the biopotential evoked by the retina in response to a light stimulus. The flash evoked ERG (fERG) is the ERG modality most frequently used clinically to diagnose and monitor retinal disorders. We hereby present a new method to record spontaneous retinal activity, without the use of a flash stimulus, that we named the resting-state ERG (rsERG).

Impact of inherited retinal diseases on Canadian patients and families: a mixed-methods study.

Objective: To understand the physical, psychosocial, and practical challenges faced by Canadian patients with inherited retinal diseases (IRDs) and their families.

Design: Mixed methods.

Participants: A total of 408 Canadians living with or caring for someone with an IRD (mean age = 51.

Repair of Rhegmatogenous Retinal Detachment in Choroideremia Secondary to Posterior Extramacular Retinal Hole.

Rhegmatogenous retinal detachment in choroideremia is a rare occurrence. The authors present a case of a 23-year-old man with choroideremia with a near-total rhegmatogenous retinal detachment. Fundus examination did not reveal any retinal breaks, but extensive preoperative optical coherence tomography detected a small posterior hole along the superior arcades.

Non-communicable disease risk factors and management among internal migrant in China: systematic review and meta-analysis.

Background: In 2019, there are more than 290 million people who have ever migrated from rural to urban areas in China. These rural-to-urban internal migrants account for more than one-fifth of China's population and is the largest internal migrant group globally. We present the first systematic review that examines whether internal migrants are more likely to exhibit non-communicable diseases (NCDs) risk factors and have worse NCD management outcomes than non-migrant counterparts in China.

Durability of VEGF Suppression With Intravitreal Aflibercept and Brolucizumab: Using Pharmacokinetic Modeling to Understand Clinical Outcomes.

Purpose: To investigate whether vascular endothelial growth factor (VEGF)-suppression durations contribute to our understanding of clinical trial outcomes by simulating vitreous molar concentrations (Cvm) of intravitreal aflibercept (IVT-AFL) and brolucizumab (IVT-BRO) using pharmacokinetic (PK) modeling.

Methods: A PK model simulated Cvm after single-dose IVT-AFL, IVT-BRO, and ranibizumab (IVT-RAN), and extrapolated intraocular VEGF-suppression thresholds and durations. Vitreous PK after multidose regimens used in studies of IVT-AFL versus IVT-BRO were simulated and compared with best-corrected visual acuity (BCVA) data.

Imaging Biomarkers and Their Impact on Therapeutic Decision-Making in the Management of Neovascular Age-Related Macular Degeneration.

These recommendations, produced by a group of Canadian retina experts, have been developed to assist both retina specialists and general ophthalmologists in the management of vision-threatening neovascular age-related macular degeneration (nAMD). The recommendations are based on published evidence as well as collective experience and expertise in routine clinical practice. We provide an update on practice principles for optimal patient care, focusing on identified imaging biomarkers, in particular retinal fluid, as well as current and emerging therapeutic approaches.

Case Report: Effect of a Retinal Prosthesis System on Charles Bonnet Visual Hallucinations.

Significance: Charles Bonnet syndrome is commonly encountered and diagnosed in low-vision patients. It can be distressing for some of them, as there is no known effective treatment of this condition. Although there is a growing interest in retinal implants for blind patients with severe retinal diseases, the effect of these devices on Charles Bonnet syndrome visual hallucinations remains undocumented.

The Role of Telemedicine to Alleviate an Increasingly Burdened Healthcare System: Retinopathy of Prematurity.

Telemedicine-based remote digital fundus imaging (RDFI-TM) offers a promising platform for the screening of retinopathy of prematurity. RDFI-TM addresses some of the challenges faced by ophthalmologists in examining this vulnerable population in both low- and high-income countries. In this review, we studied the evidence on the use of RDFI-TM and analyzed the practical framework for RDFI-TM systems.

Coats-like Exudative Vitreoretinopathy in Retinitis Pigmentosa: Ocular Manifestations and Treatment Outcomes.

Purpose: To provide a comprehensive review of the ocular manifestations, outcomes, and genetic findings in patients with Coats-like retinitis pigmentosa (RP).

Design: Multicenter, retrospective, nonconsecutive case series.

Participants: Patients with a diagnosis of RP demonstrating Coats-like exudative vitreoretinopathy between January 1, 2008, and October 1, 2019.

The effect of pharmacological pupillary dilation on intraocular pressure measurement.

Objective: To measure the difference in intraocular pressure (IOP) before and after pharmacologic mydriasis in normal subjects using Goldmann applanation tonometer (GAT) and the Diaton transpalpebral tonometer (DT).

Design: Prospective case series study.

Participants: Sixty-seven adult patients attending a tertiary general ophthalmology eye care center.

Smartphone-based fundus photography for screening of plus-disease retinopathy of prematurity.

Background: Inadequate screening of treatment-warranted retinopathy of prematurity (ROP) can lead to devastating visual outcomes. Especially in resource-poor communities, the use of an affordable, portable, and easy to use smartphone-based non-contact fundus photography device may prove useful for screening for high-risk ROP. This study evaluates the feasibility of screening for high-risk ROP using a novel smartphone-based fundus photography device, RetinaScope.

Smartphone-Based, Rapid, Wide-Field Fundus Photography for Diagnosis of Pediatric Retinal Diseases.

Purpose: An important, unmet clinical need is for cost-effective, reliable, easy-to-use, and portable retinal photography to evaluate preventable causes of vision loss in children. This study presents the feasibility of a novel smartphone-based retinal imaging device tailored to imaging the pediatric fundus.

Methods: Several modifications for children were made to our previous device, including a child-friendly 3D printed housing of animals, attention-grabbing targets, enhanced image stitching, and video-recording capabilities.