Subretinal Gene Therapy Drug AGTC-501 for XLRP Phase 1/2 Multicenter Study (HORIZON): 24-Month Safety and Efficacy Results: Subretinal Gene Therapy AGTC-501 for XLRP Ph 1/2 24M Results.

Purpose: To evaluate the safety and efficacy of subretinal gene therapy using AGTC-501 (rAAV2tYF-GRK1-RPGR) in male participants with X-linked retinitis pigmentosa (XLRP).

Design: Phase 1/2, open-label, dose-escalation study.

Methods: Setting: Four centers in the United States.

Real-World Long-Term Outcomes of Intravitreal Faricimab in Previously Treated Chronic Neovascular Age-Related Macular Degeneration.

Purpose: To study the real-world outcomes of intravitreal faricimab (IVF) in longstanding neovascular age-related macular degeneration (nAMD) over a one-year study period.

Methods: Retrospective single-center cohort study of patients with previously treated nAMD receiving IVF with at least 12 months of follow up. Main outcome measures include injection intervals, visual acuity (VA), and optical coherence tomography features.

Global Validation of a Model to Predict Reduced Estimated GFR in People With Type 2 Diabetes Without Diagnosis of CKD.

Introduction: A minimal-resource model for predicting reduced kidney function among people with type 2 diabetes and no diagnosis of chronic kidney disease (CKD) stages 3 to 5 was previously developed in a UK population to pre-screen for undiagnosed CKD. This study aims to evaluate the performance of the model on a global population and assess its adequacy with and without regional adjustment.

Methods: A retrospective observational study was performed using data collected from the iCaReMe global registry (NCT03549754) and the DISCOVER study (NCT02322762 and NCT02226822).

An Open-Label Phase II Study Assessing the Safety of Bilateral, Sequential Administration of Retinal Gene Therapy in Participants with Choroideremia: The GEMINI Study.

Choroideremia, an incurable, progressive retinal degeneration primarily affecting young men, leads to sight loss. GEMINI was a multicenter, open-label, prospective, two-period, interventional Phase II study assessing the safety of bilateral sequential administration of timrepigene emparvovec, a gene therapy, in adult males with genetically confirmed choroideremia (NCT03507686, ClinicalTrials.gov).

Ultrawidefield Fluorescein Angiography and OCT Findings in Children and Young Adults with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy.

Purpose: Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare genetic (CAPN5) autoimmune condition typically diagnosed in adulthood and characterized by a triad of inflammation, retinal degeneration, and neovascularization. We report novel multimodal imaging findings in children and young adults with ADNIV, and early treatment response to short-duration local and systemic corticosteroids.

Design: Retrospective consecutive case series.

Clustering Identifies Subtypes With Different Phenotypic Characteristics in Women With Polycystic Ovary Syndrome.

Context: Hierarchical clustering (HC) identifies subtypes of polycystic ovary syndrome (PCOS).

Objective: This work aimed to identify clinically significant subtypes in a PCOS cohort diagnosed with the Rotterdam criteria and to further characterize the distinct subtypes.

Methods: Clustering was performed using the variables body mass index (BMI), luteinizing hormone (LH), follicle-stimulating hormone, dehydroepiandrosterone sulfate, sex hormone-binding globulin (SHBG), testosterone, insulin, and glucose.

External validation of a minimal-resource model to predict reduced estimated glomerular filtration rate in people with type 2 diabetes without diagnosis of chronic kidney disease in Mexico: a comparison between country-level and regional performance.

Background: Patients with type 2 diabetes are at an increased risk of chronic kidney disease (CKD) hence it is recommended that they receive annual CKD screening. The huge burden of diabetes in Mexico and limited screening resource mean that CKD screening is underperformed. Consequently, patients often have a late diagnosis of CKD.

Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis.

Purpose: Carbonic anhydrase inhibitors (CAIs) reduce macular schisis in patients with X-linked retinoschisis (XLRS). The purpose of this study was to determine if CAIs reduce the incidence of complications from XLRS, including macular atrophy, retinal tears, and retinal detachment (RD), the most common causes of vision loss in patients with XLRS.

Methods: For this retrospective interventional case series, a chart review of patients examined at Cincinnati Children's Hospital Medical Center [CCHMC] and Cincinnati Eye Institute [CEI] between 1/1/2015 and 1/16/2023 was performed.

Diagnosis codes underestimate chronic kidney disease incidence compared with eGFR-based evidence: a retrospective observational study of patients with type 2 diabetes in UK primary care.

Background: Type two diabetes (T2D) is a leading cause of both chronic kidney disease (CKD) and onward progression to end-stage renal disease. Timely diagnosis coding of CKD in patients with T2D could lead to improvements in quality of care and patient outcomes.

Aim: To assess the consistency between estimated glomerular filtration rate (eGFR)-based evidence of CKD and CKD diagnosis coding in UK primary care.

Classification and Growth Rate of Chorioretinal Atrophy after Voretigene Neparvovec-Rzyl for RPE65-Mediated Retinal Degeneration.

Purpose: Classify the appearance and quantify the growth rate of chorioretinal atrophy in patients who received voretigene neparvovec-rzyl (VN) for RPE65-mediated retinal degeneration.

Design: Multicenter retrospective analysis.

Subjects: Patients who underwent subretinal VN injection at 5 institutions and demonstrated posterior-pole chorioretinal atrophy.

Single-cell profiling reveals inflammatory polarization of human carotid versus femoral plaque leukocytes.

Femoral atherosclerotic plaques are less inflammatory than carotid plaques histologically, but limited cell-level data exist regarding comparative immune landscapes and polarization at these sites. We investigated intraplaque leukocyte phenotypes and transcriptional polarization in 49 patients undergoing femoral (n = 23) or carotid (n = 26) endarterectomy using single-cell RNA-Seq (scRNA-Seq; n = 13), flow cytometry (n = 24), and IHC (n = 12). Comparative scRNA-Seq of CD45+-selected leukocytes from femoral (n = 9; 35,265 cells) and carotid (n = 4; 30,655 cells) plaque revealed distinct transcriptional profiles.

INTRAOPERATIVE BLEB BEHAVIOR IN SUBRETINAL GENE AUGMENTATION THERAPY FOR INHERITED RETINAL DISEASES.

Purpose: In subretinal gene therapy for inherited retinal diseases (IRDs), blebs may not propagate predictably in the direction of the injection cannula. We evaluated factors that influenced bleb propagation among various IRDs.

Methods: Retrospective review of all subretinal gene therapy procedures performed by a single surgeon between September 2018 and March 2020 for various IRDs.

Imputation and missing indicators for handling missing data in the development and deployment of clinical prediction models: A simulation study.

In clinical prediction modelling, missing data can occur at any stage of the model pipeline; development, validation or deployment. Multiple imputation is often recommended yet challenging to apply at deployment; for example, the outcome cannot be in the imputation model, as recommended under multiple imputation. Regression imputation uses a fitted model to impute the predicted value of missing predictors from observed data, and could offer a pragmatic alternative at deployment.

Development of minimal resource pre-screening tools for chronic kidney disease in people with type 2 diabetes.

Regular chronic kidney disease (CKD) screening can facilitate earlier diagnosis of CKD and preventative action to reduce the risk of CKD progression. People with type 2 diabetes are at a higher risk of developing CKD; hence, it is recommended that they undergo annual screening. However, resources may be limited, particularly in lower-to-middle income countries, and those at the highest risk of having an abnormal CKD screening result should be prioritised for screening.

11-Oxygenated Androgen Metabolite Concentrations Are Affected by Pubertal Progression and Obesity.

Introduction: 11-oxygenated C19 steroids (11-oxyandrogens) have been shown to rise during adrenarche and remain higher throughout adulthood than in early childhood. The patterns of circulating 11-oxyandrogens throughout normal puberty have not yet been described.

Methods: We conducted a secondary analysis of healthy youth participants, both males and females, enrolled in six prior endocrine studies (N = 249).

Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.

Purpose: To report the concurrent presentation and management of -associated Leber Congenital Amaurosis and associated Familial Exudative Vitreoretinopathy (FEVR).

Materials And Methods: A 6-month-old Caucasian infant presented with poor visual response, high hypermetropia, and infantile-nystagmus with a provisional diagnosis of Leber Congenital Amaurosis based on clinical findings. Genetic counseling and testing were performed with a 285 gene retinal dystrophy panel (Blueprint Genetics).

Hypotony maculopathy and choroidal detachment from repeated nocturnal ocular compression in a pediatric patient.

Purpose: To report clinical outcomes of a pediatric patient with unilateral reversible vision loss secondary to hypotony from repeated accidental nocturnal ocular compression from circumaural headphone wear.

Observations: A 17-year-old male with pathologic myopia and history of retinopathy of prematurity previously treated with laser ablation in both eyes presented with reduced visual acuity in his right eye from choroidal detachment and hypotony maculopathy. In the absence of uveitis and intraocular pressure lowering medications, it was determined that repeated nocturnal ocular compression from circumaural headphones created episodes of hypotony.

Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease.

We previously reported that planned preterm delivery at 34 weeks gestational age provided an opportunity to treat Norrie disease in the vasoproliferative phase, prevented infantile retinal detachment, and preserved functional vision without further treatment after infancy. Although retinal vascularization did not proceed postnatally, after 8 years of follow-up, the retinas remained attached, and rudimentary foveal development was observed by optical coherence tomography. Best corrected visual acuity gradually improved to 20/80 with both eyes, and visual fields and real-world visual performance were remarkably functional.

INTRAVITREAL ANTIVASCULAR ENDOTHELIAL GROWTH FACTOR FOR THE TREATMENT OF CHOROIDAL NEOVASCULARIZATION SECONDARY TO OCULAR HISTOPLASMOSIS: Ten-Year Follow-Up.

Purpose: To assess the long-term efficacy of intravitreal antivascular endothelial growth factor injections (IVI), alone or in combination with verteporfin photodynamic therapy (IVI/PDT), for management of choroidal neovascularization secondary to presumed ocular histoplasmosis syndrome (POHS).

Methods: Retrospective, comparative, interventional case series analyzing 82 eyes in 74 patients treated with either IVI or IVI/PDT for presumed ocular histoplasmosis syndrome choroidal neovascularization from January 2006 to January 2021.

Results: The average logarithm of the minimum angle of resolution VA in year 5 was 0.

Alternative Biologic Therapy in Children Failing Conventional TNFα Inhibitors for Refractory, Noninfectious, Chronic Anterior Uveitis.

Purpose: A significant number of children with noninfectious, chronic anterior uveitis (CAU) fail to respond to conventional therapy; however, successful alternative biologic treatments (ABT) have not been well described. This study aims to review the clinical and treatment characteristics of children with CAU who require ABT.

Design: Retrospective, nonrandomized clinical study.