Digital Commons Network^™

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum And Novel Clinical Observations In 241 Patients, Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, Rebecca Procopio, Andrea L. Vincent, Lorenzo Bianco, Maurizio Battaglia Parodi, Lucia Ziccardi, Giulio Antonelli, Lucilla Barbano, João P. Marques, Sara Geada, Ana L. Carvalho, Wei C. Tang, Choi M. Chan, Camiel J. F. Boon, Jonathan Hensman, Ta-Ching Chen, Chien-Yu Lin, Pei-Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon, John R. Grigg, Robyn V. Jamieson, Elisa E. Cornish, Benjamin M. Nash, Shyamanga Borooah, Lauren N. Ayton, Alexis Ceecee Britten-Jones, Thomas L. Edwards, Jonathan B. Ruddle, Abhishek Sharma, Rowan G. Porter, Tina M. Lamey, Terri L. Mclaren, Samuel Mclenachan, Danial Roshandel, Fred K. Chen

Wills Eye Hospital Papers

PURPOSE: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene.

METHODS: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT. Images were graded into six phenotypes. Statistical analyses were performed to determine genotype-phenotype correlations.

RESULTS: The median age at symptom onset was 40 years (range, 4-78 years). FAF phenotypes included normal (5%), butterfly pattern dystrophy, …

Cavernous Wonders: Delving Into Cavernous Sinus Syndrome In Neuro-Ophthalmology, Anza Rizvi, Ba

inSIGHT

Cavernous sinus syndrome (CSS) is any disease process that affects the cavernous sinus. This syndrome is marked by a complex interplay of neurovascular symptoms, primarily due to the compression or dysfunction of the cranial nerves that traverse the cavernous sinus. Understanding the intricate details of this syndrome is critical to providing optimal care and improving patient outcomes.

Seeing Clearly: A Bright Future With Light Adjustable Intraocular Lenses For Presbyopia, Shady Mina, Bs

inSIGHT

Presbyopia, or the age-related decline in the ability to focus on near objects, is a common vision disorder that affects 1.8 billion people globally, with this number expected to increase to 2.1 billion by 2030.^1-4 A diminished accommodation response is the primary cause of presbyopia.¹ The eye has a very complex accommodation mechanism that permits people to distinctly see objects from various distances.^1,3 Even though the precise mechanism of accommodation is yet to be determined, the current evidence strongly supports Helmholtz’s theory, which claims that the thickness and curvature of the eye’s lens increase while its diameter …

Medical Missions, Ethical Considerations And The Future For Healthcare Delivery In Ophthalmology, Robert Medina, Ba

inSIGHT

Beginning hundreds of years ago, priests from Europe embarked on ‘medical missions’ with the goals of delivering care to the body, mind, and soul. Hundreds of years later, members of the United States healthcare system set out on humanitarian medical missions to provide medical assistance to communities in developing countries.¹ The concept of providing care internationally as a product of global social responsibility has become engrained in the United States healthcare system, and is popular among providers, trainees, and pre-medical students. In 2023, 21.8% (n = 3264) of matriculating medical students reported participating in international volunteer work, while 7.0% …

Chronic Progressive External Ophthalmoplegia, Bahram Pashaee, Mph, Bs

inSIGHT

Chronic progressive external ophthalmoplegia is an inherited or sporadic form of dystrophy that preferentially affects the extraocular muscles of the eye. While this dystrophy can manifest systemically, the extraocular muscles are commonly involved due to their constant metabolic demands and vulnerability to oxidative stress.¹ This preferential involvement of the eyelid levator muscle and extraocular muscles makes CPEO an important condition to consider in a differential diagnosis for eyelid asymmetry and double vision among other conditions such as myasthenia gravis, thyroid-associated ophthalmoplegia, and other mitochondrial myopathies.² This dystrophy tends to occur in the third or fourth decade of life. …

Macular Holes: Diagnosis, Treatment, And Complications, Ayra Khan, Bs

inSIGHT

Macular hole is a condition that affects the central visual field of the eye. Without prompt diagnosis and intervention, macular holes can progressively worsen, significantly impacting both vision and overall quality of life.

Cmv Retinitis: An Expert’S Perspective, Caitlyn Kwun, Ba

inSIGHT

Uveitis is a rare inflammatory disease with a prevalence of around 38 per 100,000 people and is the overall 5th leading cause of blindness in the developed world.^1,2 Uveitis is most commonly found in patients younger than 40 years of age, but it can occur in any age group with an etiology that varies within each age demographic.^1,3 While the etiology of certain forms of uveitis are not fully understood, there are some that are autoimmune in nature and others that are associated with systemic diseases such as sarcoidosis.⁴ Uveitis may be inflammatory or infectious. It may …

Bridging The Global Gap Of Blindness Through Artificial Intelligence - Exploring The Tools Of Ai To Address The Top Causes Of Blindness In Under-Resourced Communities Worldwide, Nathan Delacth, Bs

inSIGHT

Technological advancements have allowed us to submerge in a sea of innovation and excellence in medicine. Electronic health records transformed the healthcare landscape, improving portability of patient information while streamlining communication and fostering collaboration.¹ Imaging technologies, such as magnetic resonance imaging (MRI) and Optical computed tomography (OCT), granted us the ability to view internal structures using non-invasive methods. In a similar vein, artificial intelligence (AI) has emerged as an impactful force in various fields of medicine, and its influence on ophthalmology is no exception.

Evolution Of Lamellar Keratoplasty, Ishan Kasat, Bs

inSIGHT

Overview of Keratoplasty The evolution of corneal transplantation, or keratoplasty, has seen a paradigm shift from traditional penetrating keratoplasty (PKP) to the refined precision of lamellar keratoplasty (LK). Penetrating, or full thickness, keratoplasty is a replacement of all corneal layers: epithelium, Bowman's layer, stroma, Descemet's membrane, and endothelium.¹ Lamellar, or partial thickness, keratoplasty involves replacement of either epithelium and stroma (anterior lamellar) or Descemet’s membrane and endothelium (posterior lamellar).² From 1985 to 2004, over 95% of graft tissues were used for PKP. However, from 2005 to 2014, the percentage of PKP procedures decreased from 95% to 42%, while …

The Myopia Epidemic: Exploring The Pathology And Management Of The World’S Most Common Eye Disorder, Gabriella Baldassarre, Bs

inSIGHT

Myopia is the most common eye disorder in the world and an increasing cause of vision impairment in children.¹ Myopia is an imbalance in the refractive components of the eye and its length, leading to inaccurate focusing of light rays in front of the retina tissue instead of on it. There is a spectrum of severity of myopia, from mild nearsightedness to a more severe form known as high or degenerative myopia, which has the potential to cause vision loss and blindness. There is evidence of a developing myopia epidemic, with an estimated one-third of the world population affected …

Insight, Volume 4, Issue 1, 2024

inSIGHT

Contents

8 - The Myopia Epidemic: Exploring the Pathology and Management of the World’s Most Common Eye Disorder
By Gabriella Baldassare

15 - Evolution of Lamellar Keratoplasty
By Ishan Kasat

19 - Bridging the Global Gap of Blindness Through Artificial Intelligence
By Nathan Delacth

24 - CMV Retinitis: An Expert’s Perspective
By Caitlyn Kwun

29 - Macular Holes: Diagnosis, Treatment, and Complications
By Ayra Khan

36 - Chronic Progressive External Ophthalmoplegia
By Bahram Pashaee

39 - Medical Missions, Ethical Considerations, and the Future for Healthcare Delivery in Ophthalmology
By Robert Medina

43 - Shaping the Future of Vision: The Rise …

Deep-Learning-Based Group Pointwise Spatial Mapping Of Structure To Function In Glaucoma, Zhiqi Chen, Hiroshi Ishikawa, Yao Wang, Gadi Wollstein, Joel Schuman

Wills Eye Hospital Papers

PURPOSE: To establish generalizable pointwise spatial relationship between structure and function through occlusion analysis of a deep-learning (DL) model for predicting the visual field (VF) sensitivities from 3-dimensional (3D) OCT scan.

DESIGN: Retrospective cross-sectional study.

PARTICIPANTS: A total of 2151 eyes from 1129 patients.

METHODS: A DL model was trained to predict 52 VF sensitivities of 24-2 standard automated perimetry from 3D spectral-domain OCT images of the optic nerve head (ONH) with 12 915 OCT-VF pairs. Using occlusion analysis, the contribution of each individual cube covering a 240 × 240 × 31.25 μm region of the ONH to the model's …

Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne Weiss, Christopher Rapuano, Berthold Seitz, Massimo Busin, Tero Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis Munier, Tim Berger, Walter Lisch

Wills Eye Hospital Papers

PURPOSE: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature.

METHODS: Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)].

RESULTS: Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( …

Sans-Cnn: An Automated Machine Learning Technique For Spaceflight Associated Neuro-Ocular Syndrome With Astronaut Imaging Data, Sharif Amit Kamran, Khondker Fariha Hossain, Joshua Ong, Nasif Zaman, Ethan Waisberg, Phani Paladugu, Andrew Lee, Alireza Tavakkoli

SKMC Student Presentations and Publications

Spaceflight associated neuro-ocular syndrome (SANS) is one of the largest physiologic barriers to spaceflight and requires evaluation and mitigation for future planetary missions. As the spaceflight environment is a clinically limited environment, the purpose of this research is to provide automated, early detection and prognosis of SANS with a machine learning model trained and validated on astronaut SANS optical coherence tomography (OCT) images. In this study, we present a lightweight convolutional neural network (CNN) incorporating an EfficientNet encoder for detecting SANS from OCT images titled "SANS-CNN." We used 6303 OCT B-scan images for training/validation (80%/20% split) and 945 for testing …

Strabismus Management In Retinoblastoma Survivors, Babak Masoomian, Carol L. Shields, Hamid Riazi Esfahani, Atefeh Khalili, Fariba Ghassemi, Pukhraj Rishi, Mohammad Reza Akbari, Masoud Khorrami-Nejad

Wills Eye Hospital Papers

PURPOSE: To report the result of strabismus surgery in eye-salvaged retinoblastoma (Rb) patients.

METHODS: A retrospective case series including 18 patients with Rb and strabismus who underwent strabismus surgery after completing tumor treatment by a single pediatric ophthalmologist.

RESULTS: A total of 18 patients (10 females and 8 males) were included with a mean age of 13.3 ± 3.0 (range, 2-39) months at the time tumor presentation and 6.0 ± 1.5 (range, 4-9) years at the time of strabismus surgery. Ten (56%) patients had unilateral and 8(44%) had bilateral involvement and the most common worse eye tumor's group was D …

Contemporary Approach To Narrow Angles, Wesam Shamseldin Shalaby, Rohit Reddy, Reza Razeghinejad, L. Jay Katz

Wills Eye Hospital Papers

Glaucoma is the leading cause of irreversible blindness worldwide. Among all glaucoma types, primary angle closure glaucoma (PACG) affects approximately 23 million people worldwide, and is responsible for 50% of glaucoma-related blindness, highlighting the devastating consequences of this disease. The main mechanism of PACG is relative pupillary block. High-risk populations are female gender, Asian ethnicity, high hyperopia, short axial length, and a thick/anteriorly positioned lens. This review discusses the clinical diagnosis, classification, and management of patients with a narrow angle with and without intraocular pressure (IOP) elevation and glaucomatous optic nerve damage, including laser peripheral iridotomy (LPI), endocycloplasty (ECPL), lens …

Systolic Hypertension As Side Effect Of Topical Low Dose Atropine Drops, Barry Wasserman, Erik Massenzio, Karen Lee, David Plager

Wills Eye Hospital Papers

PURPOSE: To present a case of increased systemic hypertension and pupil dilation related to low dose atropine eyedrops.

OBSERVATIONS: A thirteen-year-old male with progressive myopia received atropine 0.05% ophthalmic drops to slow down myopia progression. He exhibited systemic systolic hypertension, photophobia, and bilateral nonreactive mydriasis. The atropine drops were discontinued, and his blood pressure and pupillary function normalized.

CONCLUSIONS AND IMPORTANCE: This case demonstrates sensitivity to low dose atropine with increased systemic blood pressure and pupillary dilation.

Efficacy And Safety Of Artificial Tears Containing Lipidure And Hypromellose For The Treatment Of Moderate Dry Eye Disease In Contact Lens Wearers, Caterina Gagliano, Marco Zeppieri, Antonio Longo, Giovanni Rubegni, Roberta Amato, Roberta Foti, Francesco Cappellani, Massimiliano Cocuzza, Federico Visalli, Ludovica Cannizzaro, Alessandro Avitabile, Giuseppe Gagliano, Lucia Lapenna, Fabiana D'Esposito

Wills Eye Hospital Papers

Background and Objectives: Dry eye disease (DED) affects 5–50% of the global population and deeply influences everyday life activities. This study compared the efficacy, tolerability, and safety of novel Respilac artificial tears containing lipidure and hypromellose (HPMC) with the widely used Nextal artificial tears, which are also HPMC-based, for the treatment of moderate DED in contact lenses (CL) wearers.

Materials and Methods: In a prospective, single-center, randomized investigation, 30 patients aged ≥18 years, diagnosed with moderate DED, and wearing CL were randomly assigned to the Respilac (n = 15) or Nextal group (n = 15). Patients self-administrated one drop of …

A Comparative Study Of Responses To Retina Questions From Either Experts, Expert-Edited Large Language Models, Or Expert-Edited Large Language Models Alone, Prashant D. Tailor, Lauren A. Dalvin, John J. Chen, Raymond Iezzi, Timothy W. Olsen, Brittni A. Scruggs, Andrew J. Barkmeier, Sophie J. Bakri, Edwin H. Ryan, Peter H. Tang, D. Wilkin Parke, Peter Belin, Jayanth Sridhar, David Xu, Ajay E. Kuriyan, Yoshihiro Yonekawa, Matthew R. Starr

Wills Eye Hospital Papers

OBJECTIVE: To assess the quality, empathy, and safety of expert edited large language model (LLM), human expert created, and LLM responses to common retina patient questions.

DESIGN: Randomized, masked multicenter study.

PARTICIPANTS: Twenty-one common retina patient questions were randomly assigned among 13 retina specialists.

METHODS: Each expert created a response (Expert) and then edited a LLM (ChatGPT-4)-generated response to that question (Expert + artificial intelligence [AI]), timing themselves for both tasks. Five LLMs (ChatGPT-3.5, ChatGPT-4, Claude 2, Bing, and Bard) also generated responses to each question. The original question along with anonymized and randomized Expert + AI, Expert, and LLM …

Rates Of Reoperation In Duane Retraction Syndrome, Han Woong Lim, Bryce Hwang, Cyril Archambault, Scott Lambert

Wills Eye Hospital Papers

PURPOSE: To investigate the types of strabismus surgeries performed and the reoperation rate in patients with Duane retraction syndrome (DRS).

DESIGN: Retrospective cohort analysis.

PARTICIPANTS: An insurance claims data set was used to identify patients diagnosed with DRS between 2007 and 2021.

METHODS: We recorded the type of strabismus surgery performed and the timing and frequency of reoperations. The hazard ratios (HRs) for reoperation were estimated according to the surgical methods using Cox regression analysis.

RESULTS: Of the 9435 patients diagnosed with DRS, 1023 (10.8%) underwent ≥ 1 strabismus operation. The median age at surgery was 5.0 years, and patients …

Long-Term Surgical Outcomes Of Glaucoma Drainage Implants In Eyes With Preoperative Intraocular Pressure Less Than 19 Mmhg, Shahin Hallaj, Jae-Chiang Wong, Lauren E. Hock, Natasha Nayak Kolomeyer, Aakriti G. Shukla, Michael J. Pro, Marlene R. Moster, Jonathan S. Myers, Reza Razeghinejad, Daniel Lee

Wills Eye Hospital Papers

BACKGROUND: This retrospective review reports on patients who underwent glaucoma drainage implant (GDI) surgery and had baseline intraocular pressure (IOP) of ≤18 mmHg with at least one year of follow-up.

METHODS: Clinical data of 67 eyes of 67 patients were collected from patients' charts, and the outcomes of GDI were evaluated until 7 years. GDI failure was defined as IOP reduction of less than 20% from the baseline at two consecutive visits three months after surgery, decline to no light perception, or if additional glaucoma surgery was performed.

RESULTS: The average age was 65.9 ± 13.2 years. Most cases were …

Performance Of Automated Machine Learning In Predicting Outcomes Of Pneumatic Retinopexy, Arina Nisanova, Arefeh Yavary, Jordan Deaner, Ferhina Ali, Priyanka Gogte, Richard Kaplan, Kevin Chen, Eric Nudleman, Dilraj Grewal, Meenakashi Gupta, Jeremy Wolfe, Michael Klufas, Glenn Yiu, Iman Soltani, Parisa Emami-Naeini

Wills Eye Hospital Papers

PURPOSE: Automated machine learning (AutoML) has emerged as a novel tool for medical professionals lacking coding experience, enabling them to develop predictive models for treatment outcomes. This study evaluated the performance of AutoML tools in developing models predicting the success of pneumatic retinopexy (PR) in treatment of rhegmatogenous retinal detachment (RRD). These models were then compared with custom models created by machine learning (ML) experts.

DESIGN: Retrospective multicenter study.

PARTICIPANTS: Five hundred and thirty nine consecutive patients with primary RRD that underwent PR by a vitreoretinal fellow at 6 training hospitals between 2002 and 2022.

METHODS: We used 2 AutoML …

Suprachoroidal Space Injection Technique Expert Panel Guidance, Charles C. Wykoff, Robert L. Avery, Mark R. Barakat, David S. Boyer, David M. Brown, Alexander J. Brucker, Emmett T. Cunningham Jr., Jeffrey S. Heier, Nancy M. Holekamp, Peter K. Kaiser, Arshad M. Khanani, Judy E. Kim, Hakan Demirci, Carl D. Regillo, Glenn C. Yiu, Thomas A. Ciulla

Wills Eye Hospital Papers

Purpose:

To develop professional guidelines for best practices for suprachoroidal space (SCS) injection, an innovative technique for retinal therapeutic delivery, based on current published evidence and clinical experience.

Methods:

A panel of expert ophthalmologists reviewed current published evidence and clinical experience during a live working group meeting to define points of consensus and key clinical considerations to inform the development of guidelines for in-office SCS injection.

Results:

Core consensus guidelines for in-office SCS injection were reached and reported by the expert panel. Current clinical evidence and physician experience supported SCS injection as a safe and effective method for delivering retinal …

A Proposal For The Use Of A Fixed Low-Energy Selective Laser Trabeculoplasty For Open Angle Glaucoma, Zachary Sacks, L. Jay Katz, Gus Gazzard, Sarah H. Van Tassel, Eytan Z. Blumenthal, Fabian S. Lerner, Augusto Azuara-Blanco, Gregory John Roy Spooner, Yoram Solberg, Thomas Samuelson, Michael Belkin

Wills Eye Hospital Papers

Selective laser trabeculoplasty (SLT) has been in routine clinical use for over 20 years with millions of patients successfully treated and a low rate of clinically significant complications. The procedure requires the clinician to manually position the laser beam on the trabecular meshwork using a gonioscopy lens and to titrate the SLT laser energy based on the amount of pigmentation in the angle, as well as the observation of small bubbles produced by the laser effect. We propose that SLT energy titration is unnecessary either to achieve intraocular pressure (IOP) reduction or to minimize potential side effects. Ample evidence to …

Safety And Efficacy Of Ixoberogene Soroparvovec In Neovascular Age-Related Macular Degeneration In The United States (Optic): A Prospective, Two-Year, Multicentre Phase 1 Study, Arshad M. Khanani, David S. Boyer, Charles C. Wykoff, Carl D. Regillo, Brandon G. Busbee, Dante Pieramici, Carl J. Danzig, Brian C. Joondeph, James C. Major, Adam Turpcu, Szilárd Kiss

Wills Eye Hospital Papers

Background

Gene therapy, successfully used in rare, monogenetic disorders, may prove to be a durable management approach for common, polygenetic conditions, including neovascular age-related macular degeneration (nAMD). Repeated injections, oftentimes monthly, and possibly for decades, of vascular endothelial growth factor antagonists (anti-VEGF), is the standard for nAMD. We hypothesised that an in-office, intravitreal administration of ixoberogene soroparvovec (ixo-vec, formerly ADVM-022), a single-dose gene therapy encoding for the proven anti-VEGF protein, aflibercept, would transform retinal cells to continually produce aflibercept to minimise treatment burden in nAMD.

Methods

In this two-year, open-label, prospective, multicentre phase 1 study, patients with nAMD responding to …

A Multicenter Study Validates The Who 2022 Classification For Conjunctival Melanocytic Intraepithelial Lesions With Clinical And Prognostic Relevance, Hardeep Singh Mudhar, Yamini Krishna, Simon Cross, Claudia Auw-Haedrich, Raymond Barnhill, Svetlana Cherepanoff, Ralph Eagle, James Farmer, Robert Folberg, Hans Grossniklaus, Martina C. Herwig-Carl, Martin Hyrcza, Sandra Lassalle, Karin U. Loeffler, Alexandre Moulin, Tatyana Milman, Robert M. Verdijk, Steffen Heegaard, Sarah E. Coupland

Wills Eye Hospital Papers

Several nomenclature and grading systems have been proposed for conjunctival melanocytic intraepithelial lesions (C-MIL). The fourth "WHO Classification of Eye Tumors" (WHO-EYE04) proposed a C-MIL classification, capturing the progression of noninvasive neoplastic melanocytes from low- to high-grade lesions, onto melanoma in situ (MIS), and then to invasive melanoma. This proposal was revised to the WHO-EYE05 C-MIL system, which simplified the high-grade C-MIL, whereby MIS was subsumed into high-grade C-MIL. Our aim was to validate the WHO-EYE05 C-MIL system using digitized images of C-MIL, stained with hematoxylin and eosin and immunohistochemistry. However, C-MIL cases were retrieved from 3 supraregional ocular pathology …

Characterization Of Errors In Retinopathy Of Prematurity Diagnosis By Ophthalmologists-In-Training In The United States And Canada, Tala Al-Khaled, Samir N. Patel, Nita G. Valikodath, Karyn E. Jonas, Susan Ostmo, Rawan Allozi, Joelle Hallak, J. Peter Campbell, Michael F. Chiang, R.V. Paul Chan

Wills Eye Hospital Papers

PURPOSE: To identify the prominent factors that lead to misdiagnosis of retinopathy of prematurity (ROP) by ophthalmologists-in-training in the United States and Canada.

METHODS: This prospective cohort study included 32 ophthalmologists-in-training at six ophthalmology training programs in the United States and Canada. Twenty web-based cases of ROP using wide-field retinal images were presented, and ophthalmologists-in-training were asked to diagnose plus disease, zone, stage, and category for each eye. Responses were compared to a consensus reference standard diagnosis for accuracy, which was established by combining the clinical diagnosis and the image-based diagnosis by multiple experts. The types of diagnostic errors that …

Alternative Genetic Diagnoses In Axenfeld-Rieger Syndrome Spectrum, Linda M. Reis, David J. Amor, Raad A. Haddad, Catherine B. Nowak, Kim M. Keppler-Noreuil, Smith Ann Chisholm, Elena V. Semina

Division of Endocrinology, Diabetes and Metabolic Diseases Faculty Papers

Axenfeld–Rieger anomaly (ARA) is a specific ocular disorder that is frequently associated with other systemic abnormalities. PITX2 and FOXC1 variants explain the majority of individuals with Axenfeld–Rieger syndrome (ARS) but leave ~30% unsolved. Here, we present pathogenic/likely pathogenic variants in nine families with ARA/ARS or similar phenotypes affecting five different genes/regions. USP9X and JAG1 explained three families each. USP9X was recently linked with syndromic cognitive impairment that includes hearing loss, dental defects, ventriculomegaly, Dandy–Walker malformation, skeletal anomalies (hip dysplasia), and other features showing a significant overlap with FOXC1-ARS. Anterior segment anomalies are not currently associated with USP9X, yet our cases …

Bilateral Interstitial Keratitis Following Covid-19: A Case Report, Nathalie D. Daher, Zeba A. Syed

Wills Eye Hospital Papers

BACKGROUND: Although the primary target of severe acute respiratory syndrome coronavirus 2 is the respiratory tract, the expression of the angiotensin-converting enzyme 2 receptor in other tissues facilitates viral entry in others parts of the body, including ocular structures. Ocular manifestations may occur before, during, or after systemic infection.

CASE PRESENTATION: We report the case of a 60-year-old male who presented with bilateral interstitial keratitis after the onset of COVID-19, with ocular symptoms starting within 7 days after systemic symptoms. Laboratory investigation did not identify any alternative etiology for his disease, although the possibility of Epstein-Barr virus or herpes simpex …

Prevalence Of Age-Related Macular Degeneration And Associated Factors In Indian Cohort In A Tertiary Care Setting, Jacqueline Hamati, Sai Prashanthi, Raja Narayanan, Niroj Sahoo, Anthony Vipin Das, Padmaja Kumari Rani, Umesh Chandra Behera, Rohit Khanna, Gudlavalleti V.S. Murthy

Student Papers, Posters & Projects

PURPOSE: To report a big data analysis of risk and protective factors in patients with AMD, as well as report on the age-adjusted prevalence in a geriatric Indian cohort in a hospital setting.

METHODS: This retrospective, observational study of all patients older than 60 years of age. Multiple logistic regression was performed for the binary outcome and the presence of AMD. Variables analyzed include age, gender, socioeconomic status, occupation, urban-rural-metropolitan distribution, self-reported history of diabetes mellitus (DM), hypertension (HTN), or coronary artery disease (CAD), ocular comorbidities, history of cataract surgery, and presenting VA. Odds ratios (OR) and 99% confidence intervals …