Eye Diseases Commons^™

Predictors Of Final Visual Outcome In Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy, Robert C Sergott, Valerio Carelli, Nancy Newman, Valérie Biousse, Patrick Yu-Wai-Man, Catherine Vignal-Clermont, Constant Josse, Magali Taiel, José-Alain Sahel, Piero Barboni

Wills Eye Hospital Papers

PURPOSE: This exploratory analysis aimed to identify predictive factors of final best-corrected visual acuity (BCVA) in patients with Leber hereditary optic neuropathy (LHON) harboring the m.11778G>A mutation who received lenadogene nolparvovec gene therapy.

METHODS: The following covariates were individually evaluated as possible factors associated with improved final BCVA: age, gender, timing of treatment, baseline BCVA value, and baseline optical coherence tomography (OCT) parameters. Univariate analyses were performed from three phase 3 studies (RESCUE, REVERSE, and REFLECT), using BCVA at 1.5 years post-treatment as the dependent variable.

RESULTS: In 113 eyes treated at least 6 months after disease onset, the …

Systemic Carbonic Anhydrase Inhibitors In Common Ophthalmic Diseases: A Scoping Review From A Clinical Standpoint, Shahin Hallaj, Wesam S. Shalaby, Sapna Sinha, Jonathan S. Myers, Reza Razeghinejad

Wills Eye Hospital Papers

PURPOSE OF REVIEW: This paper provides a detailed overview of systemic carbonic anhydrase inhibitors (CAIs) and their application in managing ophthalmic conditions, including glaucoma, cystoid macular edema, and idiopathic intracranial hypertension. Despite their recognized clinical benefits, the potential for severe systemic adverse effects often discourages clinicians from prescribing these agents. By examining the pharmacology, pharmacokinetics, safety profile, and clinical indications of systemic CAIs, this review highlights strategies to mitigate treatment challenges, particularly in patients with comorbidities and complex medical backgrounds.

RECENT FINDINGS: New insights into the diverse roles and distribution of carbonic anhydrase (CA) isozymes have expanded our understanding of …

Consideration Of Patient Phenotypes In Geographic Atrophy Due To Age-Related Macular Degeneration, Rishi P Singh, Christina Y Weng, John W Kitchens, Jaclyn Quilantan, Roy Schwartz, Caroline R Baumal, Roger A Goldberg

Faculty, Staff and Students Publications

Geographic atrophy (GA) is a form of advanced age-related macular degeneration (AMD) affecting approximately 1 million people in the USA and 5 million globally. In this review, retinal imaging techniques used for diagnosis and monitoring progression of GA in AMD, and the risk factors associated with the development and progression of GA are summarised. To familiarise clinicians with common phenotypes of patients with GA, the clinical and imaging features that may lead to rapid progression of GA in various phenotypes are highlighted. With the recent US Food and Drug Administration approval of new GA treatments that reduce lesion growth, understanding …

Clearance Of Acute Bilateral Idiopathic Central Corneal Stromal Haze Likely Due To Topical Losartan, Karen Asfar, Jad F. Assaf, Jeremiah Gendy, Sadeer Hannush, Shady T. Awwad

Wills Eye Hospital Papers

To report the use of topical losartan as a potential treatment of acute bilateral central corneal stromal haze in a patient presenting with a syndrome resembling central toxic keratopathy (CTK).Patient and Clinical Findings:A 51-year-old man presented with clinically significant central corneal stromal haze bilaterally 6 days after a periorbital and facial contact dermatitis secondary to pesticide exposure. Uncorrected and corrected distance visual acuity (UDVA and CDVA) were 20/80 and 20/70 in the right eye, and 20/200- and 20/150+ in the left eye, respectively. After unsuccessful treatment with topical antivirals, antibiotics and corticosteroids, the patient started off-label treatment with topical losartan …

Identification Of A Translatable Animal Model For Dry Eye Disease Using Comparative Analysis Of Tear Proteins Across Species, Mayelín Pérez-Perdomo, Ana González-López, Laura Ortega-Llamas, David Alba-Molina, Mario Blanco-Blanco, María Del Mar Granados, Adrián Guerrero-Moreno, Stephen Carl Pflugfelder, Christoph Ullmer, Sascha Fauser, Yolanda Jiménez-Gómez, Miguel González-Andrades

Faculty, Staff and Students Publications

Purpose: This study aimed to assess the similarity of tear proteins between experimental animals and humans to identify the most translational animal model for dry eye disease (DED).

Methods: Eleven species were selected for a structural and physicochemical comparison of healthy human tear fluid proteins involved in DED. Amino acid sequences were compared using BLAST. Protein primary structure, isoelectric point (pI) and grand average of hydropathicity (GRAVY) were determined using ExPASy and compared with humans.

Results: Among non-primate mammals, the cat (69.7 %) and pig (68.7 %) showed the highest protein sequence similarity to humans. The ruminants and cat showed …

Corrigendum To “Glands Of Moll: History, Current Knowledge And Their Role In Ocular Surface Homeostasis And Disease” [Progr Retin Eye Res 106 (2025) 101362], Michael Stopfer, Ingrid Zahn, Katharina Jüngert, Gerhard Aumüller, Frans L Moll, Martin Schicht, Helen P Makarenkova, Cintia S De Paiva, Friedrich P Paulsen

Faculty, Staff and Students Publications

No abstract provided.

Dessicating Stress Triggers And Exacerbates Experimental Ocular Graft-Versus-Host-Disease, Uta Gehlsen, Martina Maass, Daniela Stary, Svenja Wagener-Ryczek, Gwen Musial, Manolis Pasparakis, Cintia S De Paiva, Michael E Stern, Philipp Steven

Faculty, Staff and Students Publications

Introduction: Chronic ocular graft-versus-host disease (oGVHD) is one of the most common complications after allogeneic hematopoietic stem cell transplantation (aHSCT). Recent studies indicate that desiccating stress by air-conditioning in transplantation wards increases the incidence of oGVHD. To test the hypothesis that experimental desiccating stress is a risk factor for oGVHD a mouse model of oGVHD was subjected to experimental desiccating stress.

Materials/methods: A previously established chemo-induced minor-mismatch mouse model of oGVHD was used. One group was challenged with desiccating stress for 18 days and compared to non-desiccated GVHD animals. Clinical phenotyping was performed weekly and ocular tissue and regional lymph …

Macular Thinning And Microvasculature Abnormalities In Children With Sickle Cell Disease: A Longitudinal Analysis, Sally S. Ong, Ann Nampomba, Sara Rahman, Loka Thangamathesvaran, Grace Reilly, Jianqiao Ma, Jay Vaidya, Sophie Lanzkron, Adrienne W. Scott

Cardeza Foundation for Hematologic Research

PURPOSE: To assess longitudinal changes in retinal thickness and vessel density (VD) in pediatric sickle cell disease (SCD).

DESIGN: A prospective cohort study.

PARTICIPANTS: Children (< 18 years old) with HbSS and HbS variant (HbSC and HbS thalassemia) genotypes were enrolled from a university-based retina subspecialty clinic from 2017 to 2019 and followed for ≥2 years.

METHODS: Participants received 3 × 3 and 6 × 6 mm OCT and OCT angiography scans at baseline and at each follow-up visit.

MAIN OUTCOME MEASURES: Retinal thickness, superficial capillary plexus (SCP), and deep capillary plexus (DCP) VD were compared over time.

RESULTS: Children with HbSS (n = 14) and HbS variant (n = 14) genotypes with ≥1 follow-up were included in the study (total 56 eyes). For HbSS, rates of retinal thinning per …

Utility Of Cenegermin For The Management Of Neurotrophic Keratopathy After Penetrating Keratoplasty, Alexandra R. Zaloga, Ashley Khalili, Brandon D. Ayres, Brenton D. Finklea, Beeran B. Meghpara, Christopher J. Rapuano, Zeba A. Syed

Wills Eye Hospital Papers

BACKGROUND: The study aimed to report the outcomes of patients treated with cenegermin 0.002% for neurotrophic keratopathy (NK) following penetrating keratoplasty (PK).

MATERIALS AND METHODS: This retrospective case series included patients evaluated at a tertiary care hospital who completed an 8-week course of cenegermin for NK within 12 months following PK. The primary outcome measure was NK stage, while secondary outcomes included complete epithelial healing, epithelial defect size, and best-corrected visual acuity (BCVA) at baseline and four time points during and following treatment. We also evaluated disease progression.

RESULTS: Fourteen eyes of 14 patients were included and demonstrated significant improvement …

Evidence And Consensus-Based Imaging Guidelines In Birdshot Chorioretinopathy: Multimodal Imaging In Uveitis (Muv) Taskforce Report 8, Jose S. Pulido

Wills Eye Hospital Papers

PURPOSE: To develop consensus-based imaging guidelines for diagnosing and monitoring birdshot chorioretinopathy (BSCR).

DESIGN: Consensus-based approach guided by literature and an expert committee using a nominal group technique (NGT).

METHODS: An expert committee of 5 international uveitis specialists reviewed 15 well-documented representative BSCR cases with comprehensive imaging data. Cases with active and inactive disease were included. Imaging, including color fundus photography (CFP), fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA), optical coherence tomography (OCT), fundus autofluorescence (FAF), and OCT angiography (OCTA) were reviewed. Using a structured NGT approach, consensus-based recommendations were developed for specific disease characteristics, biomarkers of activity, and …

Integrating Explainable Machine Learning And Transcriptomics Data Reveals Cell-Type Specific Immune Signatures Underlying Macular Degeneration, Khang Ma, Hosei Nakajima, Nipa Basak, Arko Barman, Rinki Ratnapriya

Faculty, Staff and Students Publications

Genome-wide association studies (GWAS) have established key role of immune dysfunction in Age-related Macular Degeneration (AMD), though the precise role of immune cells remains unclear. Here, we develop an explainable machine-learning pipeline (ML) using transcriptome data of 453 donor retinas, identifying 81 genes distinguishing AMD from controls (AUC-ROC of 0.80, CI 0.70–0.92). Most of these genes were enriched in their expression within retinal glial cells, particularly microglia and astrocytes. Their role in AMD was further strengthened by cellular deconvolution, which identified distinct differences in microglia and astrocytes between normal and AMD. We corroborated these findings using independent single-cell data, where …

Infectious Endophthalmitis: An Overview Of Clinical Features, Microbiology Profile, And Antibiotic Sensitivity Pattern, Seyed Ali Tabatabaei, Ahmad Masoumi, Arash Mirzaei, Reza Mirshahi, Bita Momenaei, Faezeh Moghimpour Bijani, Ali Rashidinia, Mohammadreza Nazari, Mohammad Ahadifard, Zahra Mahdizad, Samer Habeel, Seyed Mahbod Baharnoori, Mohammad Soleimani

Wills Eye Hospital Papers

PURPOSE: To describe the demographic characteristics, etiology, microbiological spectrum, and antibiotic sensitivity patterns in patients with endophthalmitis.

METHODS: This is a retrospective case series spanning from May 2012 to September 2018. All included patients were diagnosed with endophthalmitis and confirmed by laboratory tests. Data were collected on patient demographics, types of endophthalmitis, and microbiologic and medical records.

RESULTS: Nine hundred ninety-two records of patients with endophthalmitis were assessed. Of the total cases, 657 patients (66.2%) were male, whereas 335 (33.8%) were female. The mean age of the patients was 57.2 ± 22.8 years and ranged from 2 to 95 years. …

Long-Term Non-Conditional And Conditional Metastasis Of Uveal Melanoma By Tumor Size Category In 8034 Patients, Rolika Bansal, Hidayet Sener, Jerry A. Shields, Carol L. Shields

Wills Eye Hospital Papers

PURPOSE: To estimate metastasis of patients with uveal melanoma (UM) based on tumor size categories classified by ultrasonographic thickness as small (0.0-3.0 mm), medium (3.1-8.0 mm), or large (≥8.1 mm) using both non-conditional and conditional analyses.

DESIGN: Retrospective analysis.

METHODS: A retrospective study of 8034 cases over 35-years at a single ocular oncology referral center evaluated the primary endpoint of cumulative incidence of metastasis at 5-, 10-, 15-, 20-, 25- and 30-years using non-conditional and conditional analysis at 3-years, 5-years, and 10-years of metastasis-free survival.

RESULTS: The mean thicknesses for small, medium, and large UMs were 2.5 mm, 5.0 mm, …

Utilizing A Clinical Resource Hub To Improve Access And Workflow For Retinopathy Screenings In The Veteran Population, Erin Kelly Pope

Doctor of Nursing Practice Final Manuscripts

Abstract

Utilizing a Clinical Resource Hub to Improve Access and Workflow for Retinal Screenings in the Veteran Population

Erin K. Pope, MSN, RN, AGCNS-BC, AMB-BC

Scot Nolan, DNP, RN, CNS, PHN, CCRN, CNRN, SCRN, FCNS

Background: Diabetic retinopathy (DR), a progressive complication of diabetes mellitus (DM), is the leading cause of blindness among working-age adults. As DR can remain asymptomatic until advanced stages, annual screenings are critical for early detection and management. Teleretinal imaging is an evidence-based method for DR screening, offering cost efficiency and reduced demand on ophthalmology clinics. At the Veterans Administration’s (VA) Loma Linda Healthcare System …

Safety And Efficacy Of A Mesenchymal Stem Cell Secretome Therapy (Kpi-012) For Persistent Corneal Epithelial Defects: A Phase 1b Trial, Valeria Sánchez Huerta, Hugo Quiroz-Mercado, Enrique O Graue-Hernández, Alejandro Navas, Spencer Alford, Darius Kharabi, Stephen Pflugfelder

Faculty, Staff and Students Publications

Background: Persistent corneal epithelial defect (PCED) is a condition often refractory to conventional treatments. KPI-012 is a topical mesenchymal stem cell secretome therapy under investigation for PCED management.

Objective: To assess the safety, tolerability, and corneal wound healing efficacy of KPI-012 in a phase 1b, proof-of-concept, open-label, single-arm clinical trial.

Methods: The safety profile and tolerability of topical self-administered KPI-012 therapy (twice daily, 1-week duration) were first evaluated in an initial safety cohort of participants with pre-existing permanent vision loss and no active corneal disease (n = 3). The safety profile and efficacy of KPI-012 were then assessed in participants …

Optimal Diagnostic Strategies For Concussion-Related Vision Disorders: A Review, Iniya K. Adhan, Kammi B. Gunton

Wills Eye Hospital Papers

Concussions are a mild form of traumatic brain injury (TBI) that is typically self-limited and transient with a high prevalence within our communities. Due to the vast visual network interconnectivity, visual symptoms secondary to a concussion occur about 90% of the time. A gold standard to confirm concussion acutely has not been well established. Visual function testing based on symptoms remains the standard of care in off-site evaluation for diagnosis of oculomotor dysfunction. This review covers the current diagnostic strategies for vision based disorders post-concussion for sideline testing, off-site testing, and research driven testing.

New First Trimester Circulating Angiogenic Biomarkers In Predicting Early-Onset And Late-Onset Fetal Growth Restriction: A Case-Control Study, Xiaoyi Bai, Wei Li, Wenjing Ding, Oi Ka Chan, Maran Bo Wah Leung, So Ling Lau, Daljit Singh Sahota, Chi Chiu Wang, Tak Yeung Leung

Faculty, Staff and Students Publications

Background: First trimester prediction of fetal growth restriction (FGR) remain suboptimal. We aimed to search for new circulating angiogenic biomarkers for improvement.

Methods: This case-control study compared 73 singleton pregnancies with early or late-onset FGR based on Delphi consensus and 73 matched normal controls. Their maternal serum samples stored during 11-13 weeks were retrieved for measurement of 36 angiogenic biomarkers by MILLIPLEX® human angiogenesis magnetic bead panels. Those biomarkers that showed significant differences between the study groups were further analysed with receiver operating characteristic (ROC) curve.

Results: In the early-onset FGR group, log10MoM of soluble neuropilin-1 (sNRP-1: 0.08 ± 0.11 …

Latin American Prevalence Of Glaucoma: A Systematic Review And Meta-Analysis, Denisse J Mora-Paez, Jaime Guedes, Dillan Cunha Amaral, Marcelo Alves Ferreira, Bruno Fernandes, Sacha Pereira, Bruno Botton, Alisha Desai, Helena Messinger Pakter, Fabio Lavinsky, Adroaldo Alencar Costa Filho

Wills Eye Hospital Papers

We conducted a systematic review and meta-analysis to estimate the prevalence of all types of glaucoma in Latin America (LATAM) and evaluate potential demographic associations. This study followed PRISMA guidelines and was registered in PROSPERO (CRD42024506330). A comprehensive search of PubMed, SciELO, and Web of Science was conducted to identify population-based or cross-sectional studies reporting glaucoma prevalence in LATAM. Studies were categorized into two groups: Group 1 included general population studies without selection based on visual acuity (VA), and Group 2 included studies limited to individuals with VA < 20/60. Data from five studies in Group 1 (25,288 individuals) and eight studies in Group 2 (29,882 individuals) were analyzed using R software. The pooled prevalence of glaucoma was 4% (95% CI: 1–3%) in Group 1 and 1% (95% CI: 0–1%) in Group 2. No statistically significant associations were found between glaucoma prevalence and sex (p = 0.08) or age (p = 0.5669). Although our findings …

Rare Jugular Bulb Tumor Presenting As Bilateral Papilledema, Yoona Choe, Matthew Boyle, Peter Maduka

Rowan-Virtua Research Day

Optic disc edema, which may arise from a range of inflammatory, ischemic, compressive, infiltrative, or hereditary causes, can also indicate elevated intracranial pressure in the form of papilledema. Given its potential association with life-threatening conditions such as mass lesions or venous sinus thrombosis, timely identification and thorough evaluation are critical. In this case, a 61-year-old female presented with a complaint of a new-onset floater in her left eye. Despite minimal symptoms and an unremarkable systemic review, dilated fundus examination revealed bilateral optic disc edema with hyperemia and hemorrhages, prompting urgent neuroimaging. MRI and MRV identified venous thrombi in the right …

Association Between Food Insecurity And Chronic Eye Disease In The National Institutes Of Health's All Of Us Research Program, Ramin Talebi, Fei Yu, Victoria L. Tseng, Anne L. Coleman

SKMC Student Presentations and Publications

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