A Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.

Microphthalmia, anophthalmia and coloboma (MAC) comprise a highly heterogeneous spectrum of congenital ocular malformations with an estimated incidence of 1 in 5000 to 1 in 30 000 live births. Although there is likely to be a genetic component in the majority of cases, many remain without a molecular diagnosis. Netrin-1 was previously identified as a mediator of optic fissure closure from transcriptome analyses of chick and zebrafish and was shown to cause ocular coloboma when knocked out in both mouse and zebrafish.

Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.

Purpose: Description of retinal phenotype by structural and functional testing, ornithine plasma levels and mutational data of OAT gene in patients with Gyrate Atrophy (GA).

Methods: Ophthalmologic examination, fundus photography (CFP), autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), Goldmann perimetry (GP), full-field electroretinogram (ffERG) and chromatic perimetry (CP) testing were performed. Ornithine plasma levels were measured.

Five-Year Incidence of Age-Related Macular Degeneration and Its Risk Factors in Adult Chinese Population: The Tongren Health Care Study.

Purpose: To examine the 5-year incidence of age-related macular degeneration (AMD) and its associated factors in an adult Chinese population.

Methods: The Tongren Health Care Study included individuals attending regular health care check-up examinations in the Beijing Tongren Hospital. Baseline examinations were performed from 2014 to 2015, with 5-year follow-up examinations conducted between 2019 and 2020.

Patient-Reported Experience Measurements From Individuals With Inherited Retinal Disorders Involved in Observational Research.

Purpose: Inherited retinal disorders (IRD) are a complex group of conditions. By developing the first patient-reported experience measurement (PREM) questionnaire tailored for individuals with IRD participating in natural history studies, we gathered information on individuals' views of their experience while they are involved in research.

Methods: Adults with IRD who (i) were enrolled in a natural history study taking place at Moorfields Eye Hospital (London, UK), (ii) had attended at least two study visits, (iii) the most recent one being less than two weeks before the questionnaire, and (iv) who were not involved in interventional research, were considered for participation.

Comparative Analytical Study of Intravitreal Triamcinolone Acetonide Versus Bevacizumab in Managing Diabetic Macular Edema: Insights From a Tertiary Eye Care Facility in India.

Aim: This study aims to compare the effects of intravitreal triamcinolone acetonide (IVTA) and bevacizumab (IVB) in diabetic macular edema (DME) management.

Methodology: A prospective interventional study was conducted at a tertiary eye care hospital in Tamil Nadu, India. The study received approval from the institutional ethics committee, and informed consent was obtained from all participants.

Progression of Capillary Hypoperfusion in Advanced Stages of Nonproliferative Diabetic Retinopathy: 6-month Analysis of RICHARD Study.

Purpose: To evaluate the 6-month progression of retinal capillary perfusion in eyes with advanced stages of nonproliferative diabetic retinopathy (NPDR).

Design: RICHARD (NCT05112445), 2-year prospective longitudinal study.

Participants: Sixty eyes with Diabetic Retinopathy Severity Scale (DRSS) levels 43, 47, and 53 from 60 patients with type 2 diabetes.

Intraretinal Retinal Pigment Epithelium Cells in Age-Related Macular Degeneration.

Purpose: To examine intraretinally migrated retinal pigment epithelium cells (iRPECs) in enucleated human eyes with various retinal conditions and corresponding intraretinal hyperreflective bodies (iHRBs) in a large cohort of patients with age-related macular degeneration (AMD) in China.

Design: Population-based study and histomorphometric investigation.

Participants: Participants of the population-based Beijing Eye Study and enucleated human eyes.

Edridge Green Lecture 2022-demystifying clinical trials and regulatory approvals in drug development.

This article provides a comprehensive overview of clinical trial design and regulatory pathways essential for drug development, specifically in the context of retinal diseases. Key concepts include trial structure, efficacy and safety endpoints, and regulatory expectations from agencies like the FDA. It delves into recent regulatory advancements, such as the inclusion of low-luminance vision as a secondary endpoint and analyses case studies from age-related macular degeneration (AMD) trials.

Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy.

Background: Variants in CRX are associated with dominantly inherited retinopathy with considerable phenotypic variability. Many patients have central retinal degeneration; in some patients, we have observed an additional focus of degeneration in the nasal retina. This study explores this phenotypic association amongst patients with CRX-associated disease.

Treatment options for chronic hypotony: a scoping review protocol.

Introduction: Chronic ocular hypotony (low intraocular pressure (IOP)) is a potentially sight-threatening condition. Although there is some controversy as to what constitutes non-physiological IOP, generally it is accepted as an IOP of 6.5 mm Hg or less, measured on three separate occasions and lasting for at least 3 months.

A Pax3 lineage gives rise to transient haematopoietic progenitors.

During embryonic development, muscle tissues, skin, and a subset of vascular endothelial cells arise from Pax3-expressing embryonic progenitors defined as paraxial mesoderm. By contrast, haemogenic potential is well established for extra-embryonic mesoderm and intra-embryonic lateral plate mesoderm, which do not express Pax3. To date, it is not known whether the haematopoietic system also contains Pax3 lineage cells.

OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution.

Optic atrophy protein 1 (OPA1) mediates inner mitochondrial membrane (IMM) fusion and cristae organization. Mutations in OPA1 cause autosomal dominant optic atrophy (ADOA), a leading cause of blindness. Cells from ADOA patients show impaired mitochondrial fusion, cristae structure, bioenergetic function, and mitochondrial DNA (mtDNA) integrity.

The Effects of Pregnancy on Disease Progression of Retinitis Pigmentosa.

Purpose: Retinitis pigmentosa (RP) is the most common diagnosis in the ophthalmic genetics clinic. Women with RP are often diagnosed during their reproductive years, posing significant challenges for family planning. The effects of pregnancy on RP progression is a frequently unanswered concern for these patients.

Macular Edema Ranibizumab v. Intravitreal anti-inflammatory Therapy (MERIT) Trial-24-week Outcomes of Uveitic Macular Edema Retreatment.

Purpose: Evaluation of longer-term effectiveness of three intravitreal therapies (methotrexate, ranibizumab, or dexamethasone implant) for participants enrolled in the randomized comparative effectiveness trial the Macular Edema Ranibizumab versus Intravitreal anti-inflammatory Therapy (MERIT) Trial followed for24 weeks.

Design: Multicenter randomized controlled clinical trial with masked evaluation of retinal thickness and visual acuity.

Participants: Patients with persistent or recurrent uveitic macular edema.