Eye Diseases Commons^™

Ocular Surface Glycocalyx In Health And Disease, Rafael Martínez-Carrasco, Ajay Sharma

Pharmacy Faculty Articles and Research

The glycocalyx is a dynamic carbohydrate-enriched structure that forms a dense coating on the surface of animal cells, including those at the ocular surface. It plays a critical role in maintaining cellular functions and it has a significant influence in disease processes. At the ocular surface, glycoproteins such as mucins are essential for hydration, lubrication, and barrier protection. Proteoglycans and glycolipids contribute to cell signaling, and mediate interactions with pathogens. Alterations in the glycocalyx are implicated in a spectrum of ocular conditions, including dry eye disease, ocular allergies, infections, and systemic diseases such as Graft-versus-host disease (GVHD) and diabetes mellitus. …

Future Applications Of Fluorescence Lifetime Imaging Ophthalmoscopy In Neuro-Ophthalmology, Neurology, And Neurodegenerative Conditions, Daniel M. Markowitz, Elizabeth Affel, György Hajnóczky, Robert C. Sergott

Farber Institute for Neuroscience Faculty Papers

Fluorescence lifetime imaging ophthalmoscopy (FLIO) has emerged as an innovative advancement in retinal imaging, with the potential to provide in vivo non-invasive insights into the mitochondrial metabolism of the retina. Traditional retinal imaging, such as optical coherence tomography (OCT) and fundus autofluorescence (FAF) intensity imaging, focus solely on structural changes to the retina. In contrast, FLIO provides data that may reflect retinal fluorophore activity, some of which may indicate mitochondrial metabolism. This review builds upon the existing literature to describe the principles of FLIO and established uses in retinal diseases while introducing the potential for FLIO in neurodegenerative conditions.

Comparison Between Maia And Mp-3 In Healthy Subjects And Patients With Diabetes, Diabetic Retinopathy, And Age-Related Macular Degeneration, Anna Marmalidou, Haleema Siddiqui, Muhammad Usman Jamil, Kwang Min Woo, Antonio Yaghy, A. Yasin Alibhai, Hiroyuki Takahashi, Stephanie Kaiser, Keith Effert, Peter Zhao, Shilpa Desai, Christopher Robinson, Jay Duker, Nadia Waheed

SKMC Student Presentations and Publications

PURPOSE: The purpose of this study was to assess the comparability of mean sensitivity (MS) values obtained using the Macular Integrity Assessment (MAIA; CenterVue S.p.A. [iCare], Padova, Italy) and Microperimeter-3 (MP-3; NIDEK CO., Ltd., Gamagori, Japan) microperimetry (MP) devices.

METHODS: This cross-sectional study includes subjects with healthy eyes, eyes with diabetes mellitus without diabetic retinopathy (DM no DR), diabetic retinopathy (DR), and non-exudative age-related macular degeneration (AMD). Patients underwent testing on both MAIA and MP-3 MP devices, using a 10-2 macular grid with 68 stimuli and identical parameters. A diagnosis-adjusted linear regression model and mixed modeling mapped MP-3 MS to …

Associations Of Long-Term Exposure To Temperature With Coronary Artery Calcification Risk Among Middle-Aged Adults: The Coronary Artery Risk Development In Young Adults (Cardia) Study, Dandan Zhao, Jie Yao, Yuanfei Li, David R Jacobs, Yinan Zheng, Chunyu Liu, Yingbin Fu, Margaret M Deangelis, Donald Lloyd-Jones, Lifang Hou, Kai Zhang

Faculty, Staff and Students Publications

BACKGROUND: The impact of ambient temperature on population health has drawn increasing attention as climate change drives more extreme temperatures globally. However, little research has investigated its connection to subclinical cardiovascular diseases. This study aims to examine the impact of long-term exposure to temperature on coronary artery calcification (CAC) among middle-aged Black and White adults in four U.S. areas with varying climate and weather conditions.

METHODS: This study compiled long-term environmental temperature data and individual coronary artery Agatston score (0 vs. >0) from the Coronary Artery Risk Development in Young Adults study. It employed logistic regression and examined the influences …

Semaglutide And Nonarteritic Anterior Ischemic Optic Neuropathy, Cindy X Cai, Michelle Hribar, Sally Baxter, Kerry Goetz, Swarup S Swaminathan, Alexis Flowers, Eric N Brown, Brian Toy, Benjamin Xu, John Chen, Aiyin Chen, Sophia Wang, Cecilia Lee, Theodore Leng, Joshua R Ehrlich, Andrew Barkmeier, Karen R Armbrust, Michael V Boland, David Dorr, Danielle Boyce, Thamir Alshammari, Joel Swerdel, Marc A Suchard, Martijn Schuemie, Fan Bu, Anthony G Sena, George Hripcsak, Akihiko Nishimura, Paul Nagy, Thomas Falconer, Scott L Duvall, Michael Matheny, Benjamin Viernes, William O'Brien, Linying Zhang, Benjamin Martin, Erik Westlund, Nestoras Mathioudakis, Ruochong Fan, Adam Wilcox, Albert Lai, Jacqueline C Stocking, Sahar Takkouche, Lok Hin Lee, Yangyiran Xie, Izabelle Humes, David B Mccoy, Mohammad Adibuzzaman, Raymond G Areaux, William Rojas-Carabali, James Brash, David A Lee, Nicole G Weiskopf, Louise Mawn, Rupesh Agrawal, Hannah Morgan-Cooper, Priya Desai, Patrick B Ryan

Faculty, Staff and Student Publications

Importance

Semaglutide, a glucagonlike peptide-1 receptor agonist (GLP-1RA), has recently been implicated in cases of nonarteritic anterior ischemic optic neuropathy (NAION), raising safety concerns in the treatment of type 2 diabetes (T2D).

Objective

To investigate the potential association between semaglutide and NAION in the Observational Health Data Sciences and Informatics (OHDSI) network.

Design, Setting, and Participants

This was a retrospective study across 14 databases (6 administrative claims and 8 electronic health records). Included were adults with T2D taking semaglutide, other GLP-1RA (dulaglutide, exenatide), or non–GLP-1RA medications (empagliflozin, sitagliptin, glipizide) from December 1, 2017, to December 31, 2023. The incidence proportion …

Five-Year Outcomes Of Lenadogene Nolparvovec Gene Therapy In Leber Hereditary Optic Neuropathy, Patrick Yu-Wai-Man, Nancy Newman, Valérie Biousse, Valerio Carelli, Mark Moster, Catherine Vignal-Clermont, Thomas Klopstock, Alfredo Sadun, Robert C Sergott, Rabih Hage, Simona Degli Esposti, Chiara La Morgia, Claudia Priglinger, Rustum Karanja, Magali Taiel, José-Alain Sahel

Department of Neurology Faculty Papers

IMPORTANCE: Limited studies have assessed the long-term benefit/risk of gene therapy for Leber hereditary optic neuropathy (LHON).

OBJECTIVE: To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-ND4 gene variant for up to 5 years after administration.

DESIGN, SETTING, AND PARTICIPANTS: The RESCUE and REVERSE Long-Term Follow-up Study (RESTORE), conducted from 2018 to 2022, is the 5-year follow-up study of the 2 phase 3 clinical studies RESCUE (Efficacy Study of Lenadogene Nolparvovec for the Treatment of Vision Loss Up to 6 Months From Onset in LHON Due to the MT-ND4 Mutation) and REVERSE …

Implementation Of Electronic Triggers To Identify Diagnostic Errors In Emergency Departments, Viralkumar Vaghani, Ashish Gupta, Usman Mir, Li Wei, Daniel R Murphy, Umair Mushtaq, Dean F Sittig, Andrew J Zimolzak, Hardeep Singh

Faculty, Staff and Students Publications

Importance: Missed diagnosis can lead to preventable patient harm.

Objective: To develop and implement a portfolio of electronic triggers (e-triggers) and examine their performance for identifying missed opportunities in diagnosis (MODs) in emergency departments (EDs).

Design, setting, and participants: In this retrospective medical record review study of ED visits at 1321 Veterans Affairs health care sites, rules-based e-triggers were developed and implemented using a national electronic health record repository. These e-triggers targeted 6 high-risk presentations for MODs in treat-and-release ED visits. A high-risk stroke e-trigger was applied to treat-and-release ED visits from January 1, 2016, to December 31, 2020. A …

Superotemporal Predisposition To Traumatic Subretinal Fibrosis In Stargardt Disease: A Case Report, Jaime Nassur, Jose Pulido, Jose Pulido, Alaa Ghoneim, Anton Orlin, Richard Kaiser, Saif Hamdan

Wills Eye Hospital Papers

PURPOSE: Subretinal fibrosis has been reported as a presumed late sequela of orbital trauma in those with Stargardt disease (STGD). This case report highlights the sequential pathologic changes in response to trauma utilizing multimodal imaging.

OBSERVATIONS: An asymptomatic 19-year-old female with no significant ocular history presented for possible drusen. Initial imaging noted yellow-white pisciform perifoveal flecks in both eyes with corresponding hyper-and hypo-fluorescent lesions on fundus autofluorescence and hyperreflective deposits on near-infrared and spectral-domain optical coherence tomography (SD-OCT). A few months later, the patient presented with a new onset "black shadow" in the right eye after a traumatic periorbital injury, …

Expansion Of Genotypic And Phenotypic Findings In Adamts18-Related Ocular Pathology, Ari August, Rebecca Procopio, Christopher Rapuano, Jose Pulido

Wills Eye Hospital Papers

Purpose: ADAMTS18-related ocular pathology is rare with few described cases. Features include distinctive facies, refractive error, anterior segment dysgenesis, and retinal dystrophy. Previous patients were found to have ho- mozygous variants in ADAMTS18. Here, we present a patient with compound heterozygous ADAMTS18-related pathology and its associated findings. Observations: A 37-year-old male with a history of bilateral congenital nasolacrimal duct obstruction, dry eye syndrome, mild myopia, and accommodative esotropia presented to the Retina Service. He was found to have multiple features of anterior segment dysgenesis and retinal dystrophy, some of which have not been previously reported in association with ADAMTS18 variants. …

Coral Crisis: Palytoxin-Induced Keratoconjunctivitis In Marine Experts, Nikolas Foresteire, Luis Cabrera, Cory Howard, Alexandra Craen, Ori Gat

West Florida Division GME Research Day 2025

No abstract provided.

Treatment Sequence With Tebentafusp And Immune Checkpoint Inhibitors In Patients With Metastatic Uveal Melanoma And Metastatic Gna11/Gnaq Mutant Melanocytic Tumors, Florentia Dimitriou, Marlana Orloff, Erica Koch Hein, Phil Cheng, Isaac Hughes, Ester Simeone, Kamaneh Montazeri, Piyush Grover, Inderjit Mehmi, Camille Gerard, Caroline Gaudy-Marqueste, Jean-Jacques Grob, Olivier Michielin, Omid Hamid, Georgina Long, Ryan Sullivan, Ellen Kapiteijn, Douglas Johnson, Paolo Ascierto, Anthony Joshua, Richard Carvajal, Marcus Butler, Jessica Hassel, Reinhard Dummer

Kimmel Cancer Center Faculty Papers

BACKGROUND: Metastatic uveal melanoma (mUM) is rare. Immune checkpoint inhibitors (ICIs) have shown modest efficacy in mUM. Tebentafusp prolonged overall survival (OS) in a phase 3 study. We aimed to investigate the efficacy and safety of the sequence of tebentafusp and ICIs.

METHODS: Patients with HLA-A * 02:01 positive mUM, or metastatic GNA11/GNAQ mutant melanocytic tumors treated with tebentafusp followed by ICIs (group 1) or the inverse sequence (group 2) at any treatment line were retrospectively identified. The primary objective was OS rate at 2 years.

RESULTS: 131 patients were included; 51 in group 1 and 80 in group 2. …

Atypical Presentation Of Ocular Myasthenia Gravis In A 26 Year Old Female, Laura Henein, Shahla Delawalla, Ebere Obasi, Gina Brock, Shameka Jones

South Atlantic Division GME Research Day 2025

No abstract provided.

Ciliary Arl14b In Vision, Alexis Breann Crockett

Graduate Theses, Dissertations, and Problem Reports (ETD)

Primary cilia are highly specialized organelles that regulate signaling, trafficking, and sensory perception across multiple tissues, including the retina. The small GTPase ADP Ribosylation Factor-Like Protein 13B (ARL13B) is an atypical ARF-family protein enriched in cilia. ARL13B acts as a guanine exchange factor (GEF) for another small GTPase ARF-like Protein 3 (ARL3). Mutations in ARL13B cause Joubert syndrome, a ciliopathy characterized by brain malformation, developmental delays, and retinal degeneration. Despite ARL13B’s known ciliary localization and clinical relevance, ARL13B’s precise functions in cilia remain poorly defined. This dissertation investigates the cilia-specific roles and GEF-specific roles of ARL13B in photoreceptors using two …

Tools And Methods For Cataract Recognition In Low-Resource Settings: A Narrative Review, Paulina N Truong, Elizabeth A Merlinsky, Nicholas C Maamari, Christina Y Weng, Andrew G Lee

Faculty, Staff and Students Publications

Cataracts are a leading cause of global blindness, with many low-resource populations having poor access to eye care. While much is known regarding surgical access and outcomes, less is understood about the initial detection of operable cataracts in low-resource settings. We performed a comprehensive literature review on existing and emerging cataract screening methods in low- and middle-income countries (LMICs). The search keywords were "cataract detection, diagnosis, assessment, and evaluation in low- and middle- income countries". 1,825 articles were identified and 62 were selected for final inclusion comprising reviews, meta-analyses, and original research studies. Only 12 studies proposed new cataract screening …

Genetic Newborn Screening For Retinoblastoma: A Belgian Initiative Baby Detect, Daniel A Rodriguez, Alex Song, Anshul Bhatnagar, Christina Y Weng

Faculty, Staff and Students Publications

Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associated with 165 genetic conditions, and includes RB1, linked to retinoblastoma, the only oncological disease tested for. Germline RB1 mutations concern around 50% of all retinoblastoma cases and 100% of the most severe, bilateral cases. Ninety percent of them occur de novo, which delays the diagnosis by about a year with subsequent loss of vision and sometimes the eye itself. Detecting children with germline RB1 mutation at …

Visual Acuity, Full-Field Stimulus Thresholds, And Electroretinography For 4 Years In The Rate Of Progression Of Ush2a-Related Retinal Degeneration (Rush2a) Study, David G Birch, Peiyao Cheng, Maureen G Maguire, Jacque L Duncan, Allison R Ayala, Janet K Cheetham, Nicole R Doucet, Todd A Durham, Abigail T Fahim, Frederick L Ferris, Rachel M Huckfeldt, Michele Melia, Michel Michaelides, Mark E Pennesi, José-Alain Sahel, Katarina Stingl, Ajoy Vincent, Christina Y Weng

Faculty, Staff and Students Publications

PURPOSE: To describe progression of best-corrected visual acuity (BCVA), full-field stimulus thresholds (FST), and electroretinography (ERG) over 4 years in the

DESIGN: Prospective natural history study.

PARTICIPANTS: Participants (n = 105) with biallelic disease-causing sequence variants in USH2A and BCVA letter scores of ≥54 were included.

METHODS: BCVA, FST, fundus-guided microperimetry, static perimetry, and spectral domain OCT were performed annually and ERG at baseline and 4 years only. Mixed effects models were used to estimate annual rates of change with 95% confidence intervals. Associations of change from baseline to 4 years between BCVA, FST, ERG, and other metrics were assessed …

Htr1b Is Necessary For Normal Retinal Function In Mice, Solomon E Gibson, Xiaofeng Tao, Guofu Shen, Justin Ma, Yong H Park, Maria Polo-Prieto, Benjamin J Frankfort

Faculty, Staff and Students Publications

Introduction: Serotonin (5-HT) is a neurotransmitter that is involved in retinal development, physiology, and vision, yet the specific contribution of individual 5-HT receptors to retinal function is poorly characterized. We identified 5-HT receptor 1B (Htr1b) as a potential key regulator of serotonergic signaling in the retina.

Methods: Htr1b localization was examined using RNAseq and in situ labeling. Retinal structure was assessed using histology and SD-OCT. Visual function was evaluated using optomotor behavioral experiments. Retinal function was characterized in vivo using electroretinography (ERG) and ex vivo using multielectrode array (MEA) recordings.

Results: Htr1b transcript and HTR1B protein localized primarily …

The Demodex Expert Panel On Treatment And Eyelid Health (Depth) Consensus Regarding The Preferred Treatment For Demodex Blepharitis, Eric Donnenfeld, Kelly K Nichols, Brandon D Ayres, Marjan Farid, Preeya K Gupta, Richard Lyndon Lindstrom, Stephen Pflugfelder, Christopher E Starr, Nandini Venkateswaran, Ian Benjamin Gaddie, Paul M Karpecki, Cecelia Koetting, Selina Mcgee, Laura M Periman, Elizabeth Yeu

Faculty, Staff and Students Publications

Purpose: To reach consensus on Demodex blepharitis (DB) treatment approaches using a modified Delphi process involving 15 ocular surface disease experts.

Methods: The Demodex Expert Panel on Treatment and Eyelid Health (DEPTH) consisted of 15 well-published ocular surface disease experts. Panelists completed two online surveys, a live consensus meeting, and a follow-up survey. The surveys consisted of scaled and multiple-choice questions related to the clinical and patient-reported outcomes of DB and its treatment. For the scaled questions using a 1 to 9 Likert scale, consensus was defined as weighted mean scores of 1-3 and 7-9, whereas for multiple-choice questions, consensus …

A Natural Small Molecule Isoginkgetin Alleviates Hypercholesterolemia And Atherosclerosis By Targeting Acly, Zhidan Zhang, Meijie Chen, Yitong Xu, Zhihua Wang, Zhenghong Liu, Chenyang He, Fanshun Zhang, Xiaojun Feng, Xiayun Ni, Yuanli Chen, Jixia Wang, Xinmiao Liang, Zhifu Xie, Jingya Li, Maciej Banach, Jaroslav Pelisek, Yuqing Huo, Yunhui Hu, Paul C Evans, Li Wang, Xiao-Yu Tian, Jianbo Xiao, Yuhua Shang, Yijun Zheng, Xunde Xian, Jianping Weng, Suowen Xu

Faculty, Staff and Students Publications

Rationale: Atherosclerotic cardiovascular disease (ASCVD) represents the predominant cause of mortality and morbidity globally. Given the established role of hypercholesterolemia as a significant risk factor for ASCVD, the discovery of new lipid-lowering medications is of paramount importance. ATP citrate lyase (ACLY) is a crucial enzyme in cellular metabolism, providing acetyl-CoA as the building block for the biosynthesis of fatty acids and cholesterol. Consequently, it has emerged as a promising drug target for innovative treatments of lipid metabolic disorders.

Methods: Virtual screening of a natural product library was performed to identify small-molecule ACLY inhibitors, leading to the discovery of isoginkgetin (ISOGK). …

Intraocular Lens Power Calculation In Challenging Cases, Jack X Ma, Li Wang, Douglas D Koch

Faculty, Staff and Students Publications

In this article, we reviewed recently published papers of intraocular lens (IOL) power calculation in special eyes. In short eyes, accurate estimation of effective lens position is critical, and the ZEISS artificial intelligence IOL calculator produces the best outcomes. In long eyes, accuracy has been improved with axial length (AL) adjusted formulas such as the Wang-Koch AL adjustment and newer IOL formulas. In keratoconic eyes, hyperopic refractive outcomes increase with steeper keratometric values, and accuracy is poor in eyes with keratometric values ≥50.0 D. Two keratoconus-specific formulas (Barrett True K for keratoconus and Kane keratoconus) have been introduced. In eyes …