Ophthalmology Commons^™

Adherence To Follow-Up Among High-Risk Nicu Patients, Iryna Muryn, Susan Mbullah Ndimah, Lisa Renee Eiland, Tara Lozy

Rowan-Virtua Research Day

Background:

Preterm infants, especially those ≤32 weeks' gestational age (GA) are at increased risk of vision and hearing loss. Risks of both vision and hearing loss can be ameliorated and in some cases prevented by conscientious screening, follow up and treatment. Universally, infants ≤32 weeks are cared for in neonatal intensive care units and there is considerable confidence that screenings and treatment occur according to established guidelines. At hospital discharge, follow up responsibility shifts to infant caretakers likely resulting in reduced compliance.

Objective:

We aimed to determine if preterm infants at risk for vision and hearing loss, attended follow up …

Is Increased Screen Time Associated With A Higher Prevalence Of Myopia In Elementary-Aged Children Globally?​, Katerina Kasatkin, Sree Gowri Sudharshan, Lakumi Dias, Adira Brenner, Emily Reilly, Maikel Mansour

Rowan-Virtua Research Day

Background: The onset of myopia in children has emerged as a significant public health concern, especially with increased screen time and reduced outdoor activity following the COVID-19 pandemic. The global prevalence of myopia is expected to rise significantly, with children being particularly vulnerable. Various studies have explored how screen time, near-work activities, and outdoor exposure influence the increasing prevalence of myopia in pediatric populations worldwide.

Hypothesis: This paper aims to evaluate whether increased screen time, especially following the COVID-19 pandemic, is associated with a higher prevalence of myopia in young children, providing a more robust understanding of this relationship across …

Impact Of The Acgme Merger On Ophthalmology Match Success: A Pre- And Post-Merger Comparative Analysis, Anna Flts

Rowan-Virtua Research Day

Background

In 2020, the ACGME merger unified the residency match process for MD and DO applicants into a single, standardized system. The merger aimed to promote equity in graduate medical education by streamlining training pathways and matching processes across applicant backgrounds.

Hypothesis

Despite the merger’s goal of standardization and equity, disparities in ophthalmology match outcomes between MD and DO applicants may persist.

Methods

Data from the SF Match and AUPO were collected for ophthalmology applicants from 2016 to 2024. Applicants were divided into pre-merger (2016–2019) and post-merger (2020–2024) cohorts. Match rates for MD and DO applicants were calculated and compared …

Alphamissense Predictions And Clinvar Annotations: A Deep Learning Approach To Uveal Melanoma, David J. Taylor Gonzalez, Mak B. Djulbegovic, Meghan Sharma, Michael Antonietti, Colin K. Kim, Vladimir N. Uversky, Carol L. Karp, Carol L. Shields, Matthew W. Wilson

Wills Eye Hospital Papers

OBJECTIVE: Uveal melanoma (UM) poses significant diagnostic and prognostic challenges due to its variable genetic landscape. We explore the use of a novel deep learning tool to assess the functional impact of genetic mutations in UM.

DESIGN: A cross-sectional bioinformatics exploratory data analysis of genetic mutations from UM cases.

SUBJECTS: Genetic data from patients diagnosed with UM were analyzed, explicitly focusing on missense mutations sourced from the Catalogue of Somatic Mutations in Cancer (COSMIC) database.

METHODS: We identified missense mutations frequently observed in UM using the COSMIC database, assessed their potential pathogenicity using AlphaMissense, and visualized mutations using AlphaFold. Clinical …

Normative Variability In Retinal Nerve Fiber Layer Thickness: Does It Matter Where The Peaks Are?, Sowjanya Gowrisankaran, Ashkan Abbasi, Xubo Song, Joel Schuman, Gadi Wollstein, Bhavna Antony, Hiroshi Ishikawa

Wills Eye Hospital Papers

PURPOSE: Retinal nerve fiber layer thickness (RNFLT), a glaucoma biomarker, has a wide normative range affecting its sensitivity and specificity for abnormality detection. The interindividual RNFLT peak location variability contribution to this wide normative range has not been directly evaluated. The purpose of this study is to assess the effect of RNFLT peak normalization (PN) on normative variability.

METHODS: Circumpapillary RNFLT profiles at 1.7 mm radius from the optic nerve head (ONH) were re-sampled from optical coherence tomography (OCT) volumes (Cirrus HD-OCT, 200 × 200) obtained from one eye of 83 healthy individuals. Fovea-ONH axis (FOA) was calculated from corresponding …

Custom Gene Panel Sequencing Of Fevr Patients And Family Members, Rima Stepanian, Gabrielle Abdelmessih, Kim Drenser, Antonio Capone Jr, Michael T. Trese, Wendy Dailey, Ken Mitton

Posters

Familial exudative vitreoretinopathy, or FEVR, defines a group of inherited retinal diseases marked by abnormal blood vessel growth in the retina, causing poor vascular development in the peripheral retina. It is linked to increased vessel permeability and may result in retinal ischemia, exudative retinal detachment, and subsequent vision loss. It can be inherited through autosomal dominant, autosomal recessive, or X-linked recessive patterns. There is no definitive treatment or cure, but is treated based on staging of disease on an individual case-by-case basis. Genomics is a rapidly growing field in personalized medicine. Targeted next-generation sequencing (NGS) enables fast and cost-effective identification …

Advancing Research On Retinitis Pigmentosa: An Investigation Of Natural History, Visual System Plasticity, And Mutation-Independent Treatment., Cecilia A. Attaway

Electronic Theses and Dissertations

Retinitis Pigmentosa (RP) is an inherited retinal disease characterized by rod and then cone photoreceptor degeneration. ~25% of cases are caused by a genetic mutation that results in autosomal dominant RP (adRP). There has been a lack of exploration of the progression of degeneration in adRP models. In Chapter Two, I examined visual acuity (VA) changes, retinal structure, and function from early to late-stage disease in a murine P23H Rho ‘knock-in’ mouse model (Rho^P23H/+), the most common form of adRP in North America. To establish a natural history, I evaluated behavioral VA, using the visual water task, …

Oculomics: Current Concepts And Evidence, Zhuoting Zhu, Yueye Wang, Ziyi Qi, Wenyi Hu, Xiayin Zhang, Siegfried K Wagner, Yujie Wang, An Ran Ran, Joshua Ong, Ethan Waisberg, Mouayad Masalkhi, Alex Suh, Yih Chung Tham, Carol Y Cheung, Xiaohong Yang, Honghua Yu, Zongyuan Ge, Wei Wang, Bin Sheng, Yun Liu, Andrew G Lee, Alastair K Denniston, Peter Van Wijngaarden, Pearse A Keane, Ching-Yu Cheng, Mingguang He, Tien Yin Wong

Faculty, Staff and Student Publications

The eye provides novel insights into general health, as well as pathogenesis and development of systemic diseases. In the past decade, growing evidence has demonstrated that the eye's structure and function mirror multiple systemic health conditions, especially in cardiovascular diseases, neurodegenerative disorders, and kidney impairments. This has given rise to the field of oculomics-the application of ophthalmic biomarkers to understand mechanisms, detect and predict disease. The development of this field has been accelerated by three major advances: 1) the availability and widespread clinical adoption of high-resolution and non-invasive ophthalmic imaging ("hardware"); 2) the availability of large studies to interrogate associations …

Eye Dissection Video Guide: An Innovative Approach To Anatomy Education Of The Orbit, Eye, And Intraocular Lens, Jack Dryden, Malli Barremkala

Posters

No abstract provided.

A Hybrid Deep Learning-Based Approach For Visual Field Test Forecasting, Ashkan Abbasi, Sowjanya Gowrisankaran, Wei-Chun Lin, Xubo Song, Bhavna Josephine Antony, Gadi Wollstein, Joel Schuman, Hiroshi Ishikawa

Wills Eye Hospital Papers

OBJECTIVE: Longitudinal assessment of visual field (VF) testing is essential in glaucoma management. Conventional VF forecasting methods require numerous prior tests, while deep learning techniques have shown promising results with fewer tests. This study introduces a hybrid deep learning framework to enhance flexibility and accuracy in VF test forecasting.

DESIGN: A retrospective longitudinal study using deep learning-based VF forecasting models.

SUBJECTS AND CONTROLS: A total of 1750 subjects (healthy and glaucoma patients) with 19 437 Humphrey VF (24-2 Swedish Interactive Threshold Algorithm) tests collected from longitudinal glaucoma cohorts at the University of Pittsburgh and New York University.

METHODS: Three deep …

Structural Updates To The Implant And Refill Needle Of The Port Delivery Platform, Dante J. Pieramici, Peter A. Campochiaro, Margaret Chang, Ian Pearce, Carl D. Regillo, Shamika Gune, Nancy Holekamp, Carlos Quezada-Ruiz, Shrirang V. Ranade, Natasha Singh, Geoffrey Wise, Joshua Horvath

Wills Eye Hospital Papers

PURPOSE: The purpose of this study was to report the impact of component-level changes and manufacturing process improvements on septum durability in the ocular implant of the Port Delivery Platform (PD-P), more commonly known as the Port Delivery System with ranibizumab (PDS) with its current formulation.

METHODS: Laboratory tests were conducted to determine (1) the bond strength of the septum to the overmold, (2) the amount of force utilized for the refill needle to puncture the septum, and (3) septum durability over 50 years. To simulate multiple refill-exchanges over long-term clinical use, implants were aged at elevated temperature in saline …

Addressing Diabetic Retinopathy Prevalence In Low-Income Communities: Barriers To Quality Healthcare And Strategies For Equitable Treatment Access, Morkeia A. Mutchelknaus

Honors Thesis

Studies have shown a strong correlation between diabetes and individuals in low-income communities, which often lack access to equitable healthcare for a variety of reasons. This honors thesis will focus on diabetic retinopathy, its prevalence, prevention, and treatment strategies in both low- and high-income communities. A comprehensive literature review was conducted to define diabetic retinopathy, assess its prevalence, and review past and present approaches to its treatment and prevention. This paper aims to identify strategies to improve healthcare accessibility in low-income communities by analyzing current strategies in place to prevent and treat diabetic retinopathy and proposing potential solutions that will …

Real-World Impact Of Latanoprostene Bunod Ophthalmic Solution 0.024% In Glaucoma Therapy: A Narrative Review, W. Daniel Stamer, Thomas Chiu, Da-Wen Lu, Tsing Hong Wang, Prin Rojanapongpun, Ngamkae Ruangvaravate, Youn Hye Jo, Marlene R. Moster, Murray Fingeret, Nora Lee Cothran, Jessica Steen, Ian B. Gaddie, Ömür Uçakhan-Gündüz, Wesam S. Shalaby, Cindy M. L. Hutnik

Wills Eye Hospital Papers

Latanoprostene bunod ophthalmic solution (LBN) 0.024% is a topical nitric oxide (NO)-donating prostaglandin F2α (PGF2α) analog first approved in November 2017 for reduction of intraocular pressure (IOP) in patients with ocular hypertension (OHT) or open-angle glaucoma (OAG). This narrative review describes the unique mechanism of action of LBN and summarizes available real-world data. Upon instillation, LBN is metabolized into latanoprost acid and butanediol mononitrate, which is further reduced to NO and an inactive metabolite. Latanoprost acid increases aqueous humor outflow primarily through the uveoscleral (unconventional) pathway, whereas NO increases outflow through the trabecular (conventional) pathway. Eight studies were identified: 2 …

Cross-Sectional Analysis Of International Rotations Among Ophthalmology Residency Programs, Malcolm M Kates, Riley Ct Duke, Krupa H. Patel, Russell W Read

Journal of Academic Ophthalmology

Background: Applicants to ophthalmology residency programs have increasingly expressed interest in international surgical rotations. As such, ophthalmology residency program directors (PDs) have expanded international offerings to meet this desire but the true number of residency programs with international offerings is unknown. Methods: In February 2023, the official residency websites of all 125 accredited US-based ophthalmology residency programs were analyzed for any mention of international rotations. Websites were identified using a Google™ search by entering the program name and “ophthalmology residency.” All websites were surveyed for information regarding international rotations including the presence/absence of an international rotation and any additional information …

Trends In Resident Cataract Surgery Complication Rates Under A Single Experienced Supervising Attending, Simran Ohri, Jason A. Zehden, Dipen Kumar, Roma Pegany, Zhidong Zhang, Kenneth Cohen, Alice Y. Zhang

Teaching and Learning Faculty Publications

Purpose: To evaluate resident surgical complication rates under the supervision of an experienced attending surgeon over five years.

Setting: A single academic medical center at University of North Carolina at Chapel Hill, Chapel Hill, NC.

Design: Retrospective chart review.

Methods: Retrospective review of the first 30e50 cases performed by five classes of residents supervised by a single experienced attending surgeon with over twenty years of experience as a surgical educator. Data was collected from Accreditation Council for Graduate Medical Education (ACGME) surgical logs and operative notes. Preoperative risk factors, operative technique, and intraoperative complication rates were analyzed.

Results: A total …

Early Postoperative Intraocular Pressure Profile Following Micropulse Vs Continuous Wave Transscleral Cyclophotocoagulation: Cohort Study, Wesam S. Shalaby, Amirmohsen Arbabi, Jae-Chiang Wong, Aakriti G. Shukla, Reza Razeghinejad, Daniel Lee, Marlene R. Moster, Jonathan S. Myers, Natasha N. Kolomeyer

Wills Eye Hospital Papers

Aim: To compare the risk of early intraocular pressure (IOP) spikes following micropulse (MP) vs continuous wave (CW) transscleral cyclophotocoagulation (CPC).

Methods: Single-center, prospective, nonrandomized study that included glaucoma patients planned for MP- or CW-CPC at Wills Eye Hospital (2020–2021). IOP was measured using rebound tonometry (iCare) immediately before, immediately after, and 1 hour after the CPC, then on postoperative day 1. The primary outcome measure was the incidence of IOP spikes, defined as IOP elevation ≥10 mm Hg vs baseline. Patients with severe IOP spikes received IOP-lowering agents (topical or oral).

Results: Twenty-six eyes (15 CW and 11 MP) …

Retinal Hemorrhage Associated With Neonatal Idiopathic Thrombocytopenia, Samara J. Hamou, Iniya K. Adhan, Maureen E. Lloyd, Barry N. Wasserman

Wills Eye Hospital Papers

PURPOSE: To describe a premature neonate with thrombocytopenia and retinal hemorrhage.

OBSERVATION: A 33 week premature neonate with neonatal thrombocytopenia (34 × 10⁹ platelet) was found to have left eye retinal hemorrhage. Bilateral retinal exam showed a healthy optic nerve and macula. A 10–12 disc diameter large nasal subretinal hemorrhage with an intraretinal white-centered hemorrhage was found. No other retinal abnormalities were found. Resolution of the hemorrhage occurred over the next three months. By this time, thrombocytopenia resolved (final platelet count: 259 × 10⁹/L), and the patient was able to fix and follow.

CONCLUSIONS AND IMPORTANCE: Neonatal …

Dietary Effects On The Retina Of Hamsters, Nicole El-Darzi, Natalia Mast, Yong Li, Irina A. Pikuleva

Faculty Scholarship

The retina is a sensory tissue in the back of the eye, which captures visual information and relays it to the brain. The retinal pigment epithelium separates the neural retina from the choroidal (systemic) circulation and is thereby exposed to circulating lipoprotein particles. Herein, we used hamsters and conducted various retinal evaluations of animals fed either a normal diet or a Western-type diet (WTD). Prior to evaluations, hamsters were injected with indocyanine green (ICG), a fluorescent dye that binds to various proteins and lipids in the systemic circulation. The WTD increased plasma levels of total and HDL cholesterol 1.8- and …

Evolving Trends In Retinoblastoma Management: A 16-Year Clinicopathological Analysis Of Enucleated Eyes, Ari H. August, Darcy Curtis, Maya Eiger-Moscovich, Antonio Yaghy, Sara E. Lally, Jerry A. Shields, Carol L. Shields, Ralph C. Eagle, Tatyana Milman

Wills Eye Hospital Papers

PURPOSE: New treatments for advanced retinoblastoma (RB) have offered alternatives to primary enucleation. We assessed the impact of these therapies on the indications for enucleation and the histopathological findings in enucleated eyes with RB.

MATERIALS AND METHODS: Eyes of all patients who underwent enucleation for RB at a single institution between January 2005 and August 2021 were included. Data collected retrospectively included demographics, clinical and pathologic staging, pathologic findings, and management. Statistical analysis included Kendall’s τb, Pearson χ², and Cramér’s V.

RESULTS: There were 254 eyes from 252 patients with information available for review. Annual enucleations decreased between …

Fluorescence Lifetime Imaging Ophthalmoscopy (Flio): A Novel Retinal Metabolic Biomarker For Multiple Sclerosis, Daniel Markowitz, Kylee Shivok, Elizabeth Affel, Ms, Jose S. Pulido, Md, Ms, Mba, Mph, Thomas P. Leist, Md, Phd, Gyorgy Hajnoczky, Md, Phd, Mahdi Alizadeh, Phd, Robert Sergott, Md

Farber Institute for Neuroscience Staff Papers and Presentations

Introduction

- Fluorescence lifetime imaging ophthalmoscopy (FLIO, Heidelberg Engineering, Figures 1 and 2), a novel in vivo retinal imaging biomarker, generates fluorescence decay lifetimes in 2 spectral channels corresponding to the following metabolic processes:

- Short Spectral Channel (SSC): 498 – 560 nm

• Corresponds to macular pigment, flavin adenine dinucleotide (FAD) and oxidative phosphorylation.

- Long Spectral Channel (LSC): 560 – 720nm

• Corresponds to predominantly lipofuscin and lysosomal function

- Based upon animal experimental models and clinical data, mitochondrial dysfunction has a role in the pathophysiology of both inflammatory and degenerative components of Multiple Sclerosis

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 …

Intraocular Pressure Changes Associated With Psychological Stress Or Anxiety In Both Healthy And Glaucoma-Diagnosed Patients, Triston Crook, Porter Biggs, James Fini, Zane Kingsbury

Annual Research Symposium

No abstract provided.

Evaluation Of Seven Commercially Available Dna Extraction Kits For Ocular Tissues, Jakob Newton, Conrad K. Ashby, Michael Trapnell, Triston Crook, Mark Eisele, Porter Biggs, Prina Patel, Christina Nelson, John A. Kriak, Kyle B. Bills, David W. Sant

Annual Research Symposium

2025 Annual Roseman Research Symposium

Applications Of Machine Learning-Driven Molecular Models For Advancing Ophthalmic Precision Medicine, Rahul Kumar, Joshua Ong, Ethan Waisberg, Ryung Lee, Tuan Nguyen, Phani Paladugu, Maria C. Rivolta, Chirag Gowda, John V. Janin, Jeremy Saintyl, Dylan Amiri, Ansh Gosain, Ram Jagadeesan

SKMC Student Presentations and Publications

Ophthalmic diseases such as glaucoma, age-related macular degeneration (ARMD), and optic neuritis involve complex molecular and cellular disruptions that challenge current diagnostic and therapeutic approaches. Advanced artificial intelligence (AI) and machine learning (ML) models offer a novel lens to analyze these diseases by integrating diverse datasets, identifying patterns, and enabling precision medicine strategies. Over the past decade, applications of AI in ophthalmology have expanded from imaging-based diagnostics to molecular-level modeling, bridging critical gaps in understanding disease mechanisms. This paper systematically reviews the application of AI-driven methods, including reinforcement learning (RL), graph neural networks (GNNs), Bayesian inference, and generative adversarial networks …

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 …

Molecular Modification Of Queen Bee Acid And 10-Hydroxydecanoic Acid With Specific Tripeptides: Rational Design, Organic Synthesis, And Assessment For Prohealing And Antimicrobial Hydrogel Properties, Song Hong, Sachin B. Baravkar, Yan Lu, Abdul Razak Masoud, Qi Zhao, Weilie Zhou

School of Medicine Faculty Publications

Royal jelly and medical grade honey are traditionally used in treating wounds and infections, although their effectiveness is often variable and insufficient. To overcome their limitations, we created novel amphiphiles by modifying the main reparative and antimicrobial components, queen bee acid (hda) and 10-hydroxyl-decanoic acid (hdaa), through peptide bonding with specific tripeptides. Our molecular design incorporated amphiphile targets as being biocompatible in wound healing, biodegradable, non-toxic, hydrogelable, prohealing, and antimicrobial. The amphiphilic molecules were designed in a hda(hdaa)-aa1-aa2-aa3 structural model with rational selection criteria for each moiety, prepared via Rink/Fmoc-tBu-based solid-phase peptide synthesis, and structurally verified by NMR and LC–MS/MS. …

Artificial Intelligence For Optical Coherence Tomography In Glaucoma, Mak B. Djulbegovic, Henry Bair, David J. Taylor Gonzalez, Hiroshi Ishikawa, Gadi Wollstein, Joel S. Schuman

Wills Eye Hospital Papers

PURPOSE: The integration of artificial intelligence (AI), particularly deep learning (DL), with optical coherence tomography (OCT) offers significant opportunities in the diagnosis and management of glaucoma. This article explores the application of various DL models in enhancing OCT capabilities and addresses the challenges associated with their clinical implementation.

METHODS: A review of articles utilizing DL models was conducted, including convolutional neural networks (CNNs), recurrent neural networks (RNNs), generative adversarial networks (GANs), autoencoders, and large language models (LLMs). Key developments and practical applications of these models in OCT image analysis were emphasized, particularly in the context of enhancing image quality, glaucoma …

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. …

Mobility Task Shows Rescue Of Scotopic Vision In A Swine Model For Autosomal Dominant Retinitis Pigmentosa After Treatment With The Meganuclease Rho 1-2, Gita Jaikumar, Jack Feist, Kautuk Kamboj, Aravind Kumar, Francesca Barone, Archana Jalligampala, Wei Wang, Jeff Smith, Dave Morris, Derek Jantz, Victor Bartsevich, Kristi Viles, Maureen Mccall

Posters-at-the-Capitol

Purpose : Retinitis pigmentosa (RP) is the most common form of inherited retinal disease with ~1:5000 people affected worldwide. The substitution of Proline to Histidine (P23H) at position 23 in the rhodopsin protein is the most common form of adRP in North America. We have shown that treating a transgenic P23H human RHO pig model of adRP (TgP23H hRHO) with a gene-editing meganuclease Rho 1-2, recovers rod structure and restores rod function. We ran WT, Rho1-2 treated and untreated TgP23H hRHO (Tg) pigs through an obstacle course to quantify visually guided mobility under light- and dark-adapted conditions using motion analysis …