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Point Of Care Ultrasound For Rapid Identification Of Central Retinal Artery Occlusion And Subsequent Vision Rescue Utilizing Intravenous Alteplase, Joseph Pepe, Karl Kasischke, Calen Hart 2025 AdventHealth Tampa

Point Of Care Ultrasound For Rapid Identification Of Central Retinal Artery Occlusion And Subsequent Vision Rescue Utilizing Intravenous Alteplase, Joseph Pepe, Karl Kasischke, Calen Hart

Florida Journal of Emergency Medicine (FJEM)

Central retinal artery occlusion (CRAO) is a rare but critical diagnosis to make in patients with acute vision loss. Cases of central retinal artery occlusion historically have a poor prognosis due to delayed presentation, lack of early identification, and limited effective treatment options. Due to these challenges, patients are often left with permanent loss of vision.

We present a case of a male patient in his late 70s with sudden onset of loss of vision to the right eye. Identification of CRAO was made utilizing point of care ultrasound (POCUS). After discussion with neurology, the patient was treated with alteplase …


A Comprehensive Study Of C-Kit-Expressing Amacrine Cells In The Mammalian Retina, Zheng Jiang, Wen Shen 2025 The Texas Medical Center Library

A Comprehensive Study Of C-Kit-Expressing Amacrine Cells In The Mammalian Retina, Zheng Jiang, Wen Shen

Faculty, Staff and Students Publications

Amacrine cells assemble complex circuits in the inner retina, where they integrate, modulate, and relay spatial and temporal information to retinal ganglion cells. Nevertheless, their organization and functional diversity are still not fully understood. In this study, we identify a distinct group of amacrine cells that express the stem cell factor receptor-c-Kit. Using combined techniques of anti-CD117 (c-Kit) immunolabeling, confocal imaging, and computational algorithms, we characterize the morphological features and spatial distribution of the c-Kit-expressing amacrine cells. Our results show that c-Kit-expressing amacrine cells are GABA-positive neurons with medium to wide dendritic fields that stratify within the specific strata in …


A Case Of The Blue Blues: The Safety Issue Of Recognizing And Avoiding The Retinal Toxicity Of Methylene Blue Compared To Brilliant Blue And Trypan Blue, Sidra Zafar, Jose S. Pulido, Samir N. Patel, Yoshihiro Yonekawa, Jordan D. Deaner 2025 Thomas Jefferson University

A Case Of The Blue Blues: The Safety Issue Of Recognizing And Avoiding The Retinal Toxicity Of Methylene Blue Compared To Brilliant Blue And Trypan Blue, Sidra Zafar, Jose S. Pulido, Samir N. Patel, Yoshihiro Yonekawa, Jordan D. Deaner

Wills Eye Hospital Papers

While blue vital dyes remain indispensable in ophthalmic surgery, medication errors, particularly the inadvertent use of methylene blue instead of trypan blue and brilliant blue, pose a significant risk to patient safety. Methylene blue has been reported to cause damage to anterior segment structures, We reported a case of inner retinal toxicity from injection of methylene blue into the vitreous cavity resulting in profound vision loss. Standardization, vigilant verification, and safer packaging are critical to preventing these never events.


Methylene Blue Associated Retinal Toxicity, Sidra Zafar, Martin Calotti, Timothy T. Xu, Justin Muste, Theodore Bowe, Luis Acaba-Berrocal, Brian Cheng, Samir Patel, Yoshihiro Yonekawa, Jose S. Pulido, Jordan D. Deaner 2025 Thomas Jefferson University

Methylene Blue Associated Retinal Toxicity, Sidra Zafar, Martin Calotti, Timothy T. Xu, Justin Muste, Theodore Bowe, Luis Acaba-Berrocal, Brian Cheng, Samir Patel, Yoshihiro Yonekawa, Jose S. Pulido, Jordan D. Deaner

Wills Eye Hospital Papers

BACKGROUND: To describe a case of inadvertent methylene blue use during pars plana vitrectomy (PPV) for an epiretinal membrane (ERM).

CASE: A 69-year-old man presented with 1 day of severe vision loss in his left eye. Two days prior to presentation, he had undergone PPV that was complicated by accidental methylene blue use. Visual acuity (VA) at presentation to our institution was CF from his baseline VA of 20/60. Optical coherence tomography (OCT) demonstrated diffuse hyperreflectivity and thickening of the inner retinal layers. The patient was started on oral prednisone with no improvement. On postoperative month 1, VA was HM. …


Derivation Of Pluripotent Stem Cell Lines (Rfsci005-A, Rfsci006-A) From Siblings Harboring Identical High-Risk Complement Variants With Discordant Age-Related Macular Degeneration, Naresh Rajendran, Ajeet Singh, Wendy Runyon, Sam Hu, Ritu Kumar, Rinki Ratnapriya, Karl Csaky, Srinivasa R Sripathi 2025 The Texas Medical Center Library

Derivation Of Pluripotent Stem Cell Lines (Rfsci005-A, Rfsci006-A) From Siblings Harboring Identical High-Risk Complement Variants With Discordant Age-Related Macular Degeneration, Naresh Rajendran, Ajeet Singh, Wendy Runyon, Sam Hu, Ritu Kumar, Rinki Ratnapriya, Karl Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Age-related macular degeneration (AMD) is a complex disease influenced by genetic and environmental factors. Variants in the complement pathway, especially in the CFH gene, increase AMD risk, yet disease severity can differ among individuals with identical high-risk genotypes. We generated induced pluripotent stem cell (iPSC) lines from siblings carrying identical high-risk complement variants but displaying discordant AMD phenotypes. These lines provide a unique platform to study epigenetic, transcriptomic, and environmental factors driving AMD heterogeneity. By comparing differentiated retinal cells, we aim to reveal mechanisms behind variable disease susceptibility and inform personalized therapies for AMD.


Generation Of Ipscs (Rfsci007-A, Rfsci008-A) From A Patient With Early-Onset Bilateral Drusen And A Healthy Sibling For Retinal Disease Modeling, Sonali Singh, Wendy Runyon, Sam Hu, Paige Grona Kennedy, Ajeet Singh, Rinki Ratnapriya, Ritu Kumar, Karl Csaky, Srinivasa R Sripathi 2025 The Texas Medical Center Library

Generation Of Ipscs (Rfsci007-A, Rfsci008-A) From A Patient With Early-Onset Bilateral Drusen And A Healthy Sibling For Retinal Disease Modeling, Sonali Singh, Wendy Runyon, Sam Hu, Paige Grona Kennedy, Ajeet Singh, Rinki Ratnapriya, Ritu Kumar, Karl Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Drusen are extracellular deposits between the retinal pigment epithelium and Bruch's membrane, commonly linked to age-related macular degeneration (AMD). However, their presence in younger individuals offers a unique opportunity to study early disease mechanisms before extensive degeneration. We generated two human induced pluripotent stem cell (hiPSC) lines from siblings' peripheral blood mononuclear cells-one with early-onset bilateral drusen and the other unaffected. This genetically matched iPSC pair enables investigation of early drusen associated pathological changes driving retinal disease development.


Dual-Level Pattern Tree For Visual Field Improves Glaucoma Progression And Polygenic Risk Prediction, Luo Song, Lucy Q. Shen, Louis R. Pasquale, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Ayellet Segre, Janey L. Wiggs, Constance Turman, Jonathan S. Myers, Tobias Elze, Nazlee Zebardast, David S. Friedman, Jae H. Kang, Mengyu Wang 2025 Thomas Jefferson University

Dual-Level Pattern Tree For Visual Field Improves Glaucoma Progression And Polygenic Risk Prediction, Luo Song, Lucy Q. Shen, Louis R. Pasquale, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Ayellet Segre, Janey L. Wiggs, Constance Turman, Jonathan S. Myers, Tobias Elze, Nazlee Zebardast, David S. Friedman, Jae H. Kang, Mengyu Wang

Wills Eye Hospital Papers

PURPOSE: To develop a dual-level pattern tree to characterize visual field (VF) loss subtypes that can be used to better predict glaucoma progression and glaucoma polygenic risk scores (PRSs).

METHODS: This study included 113,030 patients from three datasets, each used for a specific purpose: (1) model training, (2) progression forecasting, and (3) PRS correlations. We applied archetypal analysis to cluster 24-2 VFs into trunk patterns and their branch patterns. The Cox regression model was used to forecast VF progression using mean deviation (MD) slope, MD-fast slope, total deviation (TD) pointwise slope, and visual field index (VFI) slope. Multivariable regression analyses …


Delphi Panel On Neuromodulation As A Treatment Strategy For Dry Eye Disease: Unlocking The Potential Of Natural Tear Production, Esen Akpek, Lyndon Jones, Kelly K Nichols, Lisa M Nijm, Stephen Pflugfelder 2025 The Texas Medical Center Library

Delphi Panel On Neuromodulation As A Treatment Strategy For Dry Eye Disease: Unlocking The Potential Of Natural Tear Production, Esen Akpek, Lyndon Jones, Kelly K Nichols, Lisa M Nijm, Stephen Pflugfelder

Faculty, Staff and Students Publications

Purpose: Chronic tear deficiency, through reduced production and/or increased evaporation, is regarded as a root cause of dry eye disease (DED). The goal of treating DED is restoration of the tear film ultimately resulting in ocular surface homeostasis. Multiple therapeutic prescription drugs to manage DED exist with varying speed of onset, overall magnitude of efficacy, and tolerability. Neuromodulation is an emerging treatment modality offering direct stimulation of natural tear production. A modified Delphi study was conducted to explore the role of neuromodulation as a treatment for DED.

Methods: Twenty DED experts participated in three rounds of structured electronic Delphi questionnaires. …


Bilateral Endogenous Fungal Endophthalmitis Following Elective Surgical Abortion: A Single Center Case Series, Viet Q. Chau, Jesse D. Sengillo, Flavius A. Beca, Julia L. Hudson, Thomas A. Albini, Harry W. Flynn 2025 Thomas Jefferson University

Bilateral Endogenous Fungal Endophthalmitis Following Elective Surgical Abortion: A Single Center Case Series, Viet Q. Chau, Jesse D. Sengillo, Flavius A. Beca, Julia L. Hudson, Thomas A. Albini, Harry W. Flynn

Wills Eye Hospital Papers

BACKGROUND: To describe the clinical features and management of three cases of bilateral endogenous fungal endophthalmitis following elective surgical abortion performed at the same outpatient surgical center.

METHODS: Case series.

OBSERVATIONS: Three immunocompetent women presented with vision loss days to weeks following elective surgical abortions performed at a single outpatient clinic. Initial visual acuities ranged from 20/20 to 20/300. Fundoscopic examination revealed multiple white round chorioretinal lesions with vitreous infiltration bilaterally in all three patients. Vitreous tap samples were obtained for culture and broad-spectrum intravitreal antimicrobials were administered. Despite negative cultures and systemic workup, the clinical presentation was consistent with …


Bilateral Concomitant Infection Of Cytomegalovirus And Varicella-Zoster Virus Retinitis In An Immunocompromised Adult, Henry C Skrehot, Amer Alsoudi, Daniel Olson, Nhon Le, Asad Loya, Tahira Scholle 2025 The Texas Medical Center Library

Bilateral Concomitant Infection Of Cytomegalovirus And Varicella-Zoster Virus Retinitis In An Immunocompromised Adult, Henry C Skrehot, Amer Alsoudi, Daniel Olson, Nhon Le, Asad Loya, Tahira Scholle

Faculty, Staff and Students Publications

Purpose: To report a novel case of bilateral concomitant cytomegalovirus (CMV) retinitis and acute retinal necrosis (ARN) due to varicella-zoster virus (VZV) in an immunocompromised adult.

Methods: A case report was evaluated.

Results: A 36-year-old immunocompromised man presented with acute painful vision loss in the left eye. On initial presentation, uncorrected distance visual acuity was 20/20 in the right eye and counting fingers at 3 feet (≈1 m), which deteriorated to no light perception (NLP) in the left eye. Fundus examination showed necrotizing retinitis in both eyes, with features of both CMV retinitis and ARN. One week after initiation of …


Image-Based Meta- And Mega-Analysis (Ibmma): A Unified Framework For Large-Scale, Multi-Site, Neuroimaging Data Analysis, Nick Steele, Ashley A Huggins, Rajendra A Morey, Ahmed Hussain, Courtney Russell, Benjamin Suarez-Jimenez, Elena Pozzi, Hadis Jameei, Lianne Schmaal, Ilya M Veer, Lea Waller, Neda Jahanshad, Sophia I Thomopoulos, Lauren E Salminen, Miranda Olff, Jessie L Frijling, Dick J Veltman, Saskia B J Koch, Laura Nawijn, Mirjam van Zuiden, Li Wang, Ye Zhu, Gen Li, Dan J Stein, Jonathan Ipser, Yuval Neria, Xi Zhu, Orren Ravid, Sigal Zilcha-Mano, Amit Lazarov, Jennifer S Stevens, Kerry Ressler, Tanja Jovanovic, Sanne J H van Rooij, Negar Fani, Sven C Mueller, Anna R Hudson, Judith K Daniels, Anika Sierk, Antje Manthey, Henrik Walter, Nic J A van der Wee, Steven J A van der Werff, Robert R J M Vermeiren, Christian Schmahl, Julia I Herzog, Ivan Rektor, Pavel Říha, Milissa L Kaufman, Lauren A M Lebois, Justin T Baker, Isabelle M Rosso, Elizabeth A Olson, Anthony King, Israel Liberzon, Michael Angstadt, Nicholas D Davenport, Seth G Disner, Scott R Sponheim, Thomas Straube, David Hofmann, Guangming Lu, Rongfeng Qi, Xin Wang, Austin Kunch, Hong Xie, Yann Quidé, Wissam El-Hage, Shmuel Lissek, Hannah Berg, Steven E Bruce, Josh Cisler, Marisa Ross, Ryan J Herringa, Daniel W Grupe, Jack B Nitschke, Richard J Davidson, Christine Larson, Terri A deRoon-Cassini, Carissa W Tomas, Jacklynn M Fitzgerald, Jeremy Elman, Matthew Panizzon, Carol E Franz, Michael J Lyons, William S Kremen, Brandee Feola, Jennifer U Blackford, Bunmi O Olatunji, Geoffrey May, Steven M Nelson, Evan M Gordon, Chadi G Abdallah, Ruth Lanius, Maria Densmore, Jean Théberge, Richard W J Neufeld, Paul M Thompson, Delin Sun 2025 The Texas Medical Center Library

Image-Based Meta- And Mega-Analysis (Ibmma): A Unified Framework For Large-Scale, Multi-Site, Neuroimaging Data Analysis, Nick Steele, Ashley A Huggins, Rajendra A Morey, Ahmed Hussain, Courtney Russell, Benjamin Suarez-Jimenez, Elena Pozzi, Hadis Jameei, Lianne Schmaal, Ilya M Veer, Lea Waller, Neda Jahanshad, Sophia I Thomopoulos, Lauren E Salminen, Miranda Olff, Jessie L Frijling, Dick J Veltman, Saskia B J Koch, Laura Nawijn, Mirjam Van Zuiden, Li Wang, Ye Zhu, Gen Li, Dan J Stein, Jonathan Ipser, Yuval Neria, Xi Zhu, Orren Ravid, Sigal Zilcha-Mano, Amit Lazarov, Jennifer S Stevens, Kerry Ressler, Tanja Jovanovic, Sanne J H Van Rooij, Negar Fani, Sven C Mueller, Anna R Hudson, Judith K Daniels, Anika Sierk, Antje Manthey, Henrik Walter, Nic J A Van Der Wee, Steven J A Van Der Werff, Robert R J M Vermeiren, Christian Schmahl, Julia I Herzog, Ivan Rektor, Pavel Říha, Milissa L Kaufman, Lauren A M Lebois, Justin T Baker, Isabelle M Rosso, Elizabeth A Olson, Anthony King, Israel Liberzon, Michael Angstadt, Nicholas D Davenport, Seth G Disner, Scott R Sponheim, Thomas Straube, David Hofmann, Guangming Lu, Rongfeng Qi, Xin Wang, Austin Kunch, Hong Xie, Yann Quidé, Wissam El-Hage, Shmuel Lissek, Hannah Berg, Steven E Bruce, Josh Cisler, Marisa Ross, Ryan J Herringa, Daniel W Grupe, Jack B Nitschke, Richard J Davidson, Christine Larson, Terri A Deroon-Cassini, Carissa W Tomas, Jacklynn M Fitzgerald, Jeremy Elman, Matthew Panizzon, Carol E Franz, Michael J Lyons, William S Kremen, Brandee Feola, Jennifer U Blackford, Bunmi O Olatunji, Geoffrey May, Steven M Nelson, Evan M Gordon, Chadi G Abdallah, Ruth Lanius, Maria Densmore, Jean Théberge, Richard W J Neufeld, Paul M Thompson, Delin Sun

Faculty, Staff and Students Publications

The increasing scale and complexity of neuroimaging datasets aggregated from multiple study sites present substantial analytic challenges, as existing statistical analysis tools struggle to handle missing voxel-data, suffer from limited computational speed and inefficient memory allocation, and are restricted in the types of statistical designs they are able to model. We introduce Image-Based Meta- & Mega-Analysis (IBMMA), a novel software package implemented in R and Python that provides a unified framework for analyzing diverse neuroimaging features, efficiently handles large-scale datasets through parallel processing, offers flexible statistical modeling options, and properly manages missing voxel-data commonly encountered in multi-site studies. IBMMA successfully …


Rare Case Of Visual Hallucinations In A 60-Year-Old Female With A Recurring Pituitary Macroadenoma, Angelica Alday, Farah Qureshi, Kayvan Mirhadi 2025 Lake Erie College of Osteopathic Medicine

Rare Case Of Visual Hallucinations In A 60-Year-Old Female With A Recurring Pituitary Macroadenoma, Angelica Alday, Farah Qureshi, Kayvan Mirhadi

Advances in Clinical Medical Research and Healthcare Delivery

Pituitary adenomas are the third most frequently occurring primary intracranial tumor and are benign neoplasms that can have profound clinical implications. While most of these masses cause hormone hypersecretion, they may also be clinically silent until they elicit symptoms of mass effect, including severe headaches and visual field defects such as bitemporal hemianopia. This report highlights an atypical presentation of a pituitary adenoma that could be valuable for internists to consider when forming a differential diagnosis for patients with hallucinations. We discuss a case of a 60-year-old woman with a recent history of multiple emergency department visits for ongoing urinary …


Genomic Profiling Of Intraocular Leiomyomas Reveals Recurrent Copy Number Alterations, Vivian Tang, Yubai Chou, Cuyan Demirkesen, Michele M. Bloomer, Joseph B. Crawford, Ahmet M. Sarici, Carol L. Shields, Ralph C. Eagle Jr., Codrin E. Iacob, Walter P. Devine, Tatyana Milman, Melike Pekmezci 2025 Thomas Jefferson University

Genomic Profiling Of Intraocular Leiomyomas Reveals Recurrent Copy Number Alterations, Vivian Tang, Yubai Chou, Cuyan Demirkesen, Michele M. Bloomer, Joseph B. Crawford, Ahmet M. Sarici, Carol L. Shields, Ralph C. Eagle Jr., Codrin E. Iacob, Walter P. Devine, Tatyana Milman, Melike Pekmezci

Wills Eye Hospital Papers

PURPOSE: Leiomyomas are benign smooth muscle tumors that commonly present in the uterus, soft tissue, skin, and gastrointestinal tract but in rare cases can also arise within the eye. Notably, intraocular leiomyomas often show slightly different histopathologic and immunohistochemical features, referred to as mesectodermal morphology, given their presumed neural crest origin. Genetic and cytogenetic alterations of intraocular leiomyomas, as well as their association with various clinical and histopathologic features, have not been previously studied.

METHODS: We identified eight patients diagnosed with intraocular leiomyoma and performed targeted next-generation sequencing, whole transcriptome RNA sequencing, and chromosomal copy number analysis on those with …


Ocular Bacterial Microbiome Analysis By Next-Generation Sequencing In Patients With Stevens-Johnson Syndrome And Sjögren’S Disease: Associations With Dry Eye Indices, Luciana Frizon, Talita Trevizani Rocchetti, André Frizon, Rafael Jorge Alves de Alcântara, Ana Luisa Hofling-Lima, Cintia S de Paiva, José Álvaro Pereira Gomes 2025 The Texas Medical Center Library

Ocular Bacterial Microbiome Analysis By Next-Generation Sequencing In Patients With Stevens-Johnson Syndrome And Sjögren’S Disease: Associations With Dry Eye Indices, Luciana Frizon, Talita Trevizani Rocchetti, André Frizon, Rafael Jorge Alves De Alcântara, Ana Luisa Hofling-Lima, Cintia S De Paiva, José Álvaro Pereira Gomes

Faculty, Staff and Students Publications

The ocular surface microbiome plays a crucial role in maintaining immune homeostasis, and its disruption may contribute to mucosal inflammation and autoimmunity. This pilot exploratory study investigated and compared the ocular surface bacterial microbiome in patients with Stevens-Johnson syndrome (SJS), Sjögren's disease (SjD), and healthy controls using next-generation sequencing (NGS) and correlated these findings with dry eye parameters. Conjunctival swabs were collected from sixteen individuals: ten with SJS, three with SjD, and three healthy controls. Dry eye parameters were employed to evaluate the dry eye disease. Microbiome profiles were determined by the NGS of the 16S V3-V4 region and analyzed …


Predicting Intravitreal Treatment Response Using Ultrawide-Field Angiographic Biomarkers In Diabetic Retinopathy, Karthik Reddy, Callie Deng, Boonkit Purt, Yue Liang, Nikhil Bommakanti, Gina Yu, Julie Rosenthal, Yannis M. Paulus 2025 Thomas Jefferson University

Predicting Intravitreal Treatment Response Using Ultrawide-Field Angiographic Biomarkers In Diabetic Retinopathy, Karthik Reddy, Callie Deng, Boonkit Purt, Yue Liang, Nikhil Bommakanti, Gina Yu, Julie Rosenthal, Yannis M. Paulus

Wills Eye Hospital Papers

BACKGROUND: Diabetic retinopathy (DR) is a sight-threatening retinal disease with pathological mediation by vascular endothelial growth factor (VEGF). Intravitreal anti-VEGF injections are commonly used to manage DR. Ultra-wide-field fluorescein angiography (UWF-FA) can assess DR severity and characterize the amount of non-perfused retina (non-perfusion area, NP), neovascularization (neovascular area, NV), and foveal avascular zone (FAZ). However, the association between anti-VEGF treatment and NP, NV, and FAZ characterized by UWF-FA is not well established.

METHODS: A retrospective, single-center cohort study involved eyes of patients with Type 1 or 2 diabetes mellitus with at least one UWF-FA image. The area of the FAZ, …


Branch Retinal Artery Occlusion After Covid-19, Danielle Kalberer OD, MBA, Grace Tan OD 2025 Northport Veterans Affairs Medical Center

Branch Retinal Artery Occlusion After Covid-19, Danielle Kalberer Od, Mba, Grace Tan Od

Optometric Clinical Practice

Background: A healthy, 39-year-old male patient presented with sudden onset, painless vision loss of the right eye’s superior visual field two months after a mild case of COVID-19.

Case Report: The patient was diagnosed with an acute branch retinal artery occlusion and referred to the emergency department for prompt evaluation. When the emergency workup was unremarkable the patient was referred to cardiology and hematology and follow up with a retinal specialist. The exhaustive systemic work-up was unremarkable other than recent COVID-19. Retinal perfusion to the affected area resumed in the weeks after the incident but irreversible vision loss occurred.

Conclusion: …


Biallelic Loss-Of-Function Variants In C19orf44 Lead To Retinal Degeneration, Hafiz Muhammad Jafar Hussain, Wang Meng, Yumei Li, Sabika Firasat, Mark E Pennesi, Michael B Gorin, Bin Guan, Rebecca Lynn Clark, Emma Fale-Olsen, Ranya Al Rawi, Aime Agather, Laryssa A Huryn, Paul Yang, Anna Matynia, Rui Chen 2025 The Texas Medical Center Library

Biallelic Loss-Of-Function Variants In C19orf44 Lead To Retinal Degeneration, Hafiz Muhammad Jafar Hussain, Wang Meng, Yumei Li, Sabika Firasat, Mark E Pennesi, Michael B Gorin, Bin Guan, Rebecca Lynn Clark, Emma Fale-Olsen, Ranya Al Rawi, Aime Agather, Laryssa A Huryn, Paul Yang, Anna Matynia, Rui Chen

Faculty, Staff and Students Publications

Background: Inherited retinal diseases (IRDs) are a group of disorders often resulting in progressive vision loss, ultimately leading to blindness. A significant portion of their genetic causes remain unresolved, partly due to undiscovered disease-associated genes or variants. This study aimed to identify novel genetic links to IRDs.

Methods: All patients underwent comprehensive ophthalmological evaluation, including retinal imaging (fundus autofluorescence and macular optical coherence tomography) and electroretinogram testing. Whole exome sequencing and whole genome sequencing were performed on patients with clinically unsolved IRD, and data were analysed using an in-house pipeline to identify causal variants. Subsequently, Sanger sequencing was performed to …


Aprepitant For Oculoplastic Surgeries, Kevin Wu, Dianne Schlachter, Evan Black 2025 Corewell Health East

Aprepitant For Oculoplastic Surgeries, Kevin Wu, Dianne Schlachter, Evan Black

Conference Presentation Abstracts

No abstract provided.


Safety, Efficacy, And Quality Of Life Outcomes Of Subcutaneous Lonigutamab (Anti-Igf-1r): Week 12 Results From A Phase 1/2 Proof Of Concept Study In Patients With Thyroid Eye Disease (Ted), Shoaib Ugradar, David A. Kostick, Jane Spadaro, Dinesh Selva, Jean-Louis deSousa, Krishna Tumuluri, Jwu Jin Khong 2025 Corewell Health East

Safety, Efficacy, And Quality Of Life Outcomes Of Subcutaneous Lonigutamab (Anti-Igf-1r): Week 12 Results From A Phase 1/2 Proof Of Concept Study In Patients With Thyroid Eye Disease (Ted), Shoaib Ugradar, David A. Kostick, Jane Spadaro, Dinesh Selva, Jean-Louis Desousa, Krishna Tumuluri, Jwu Jin Khong

Conference Presentation Abstracts

No abstract provided.


Cerebellar Dysfunction In Glaucoma Patients, Anisha Kasi, Ji Won Bang, Vivek Trivedi, Jeannie Au, Ian Conner, Gadi Wollstein, Joel Schuman, Rakie Cham, Kevin Chan 2025 Thomas Jefferson University

Cerebellar Dysfunction In Glaucoma Patients, Anisha Kasi, Ji Won Bang, Vivek Trivedi, Jeannie Au, Ian Conner, Gadi Wollstein, Joel Schuman, Rakie Cham, Kevin Chan

Wills Eye Hospital Papers

Glaucoma patients often have higher injurious fall rates compared to healthy older adults. However, little is known about the underlying neural mechanisms. Recent evidence shows cerebral changes beyond the visual pathway of glaucoma patients, yet it remains unclear whether the cerebellum, which plays an important role in balance and motor control, is involved in glaucoma. In this study, we sought to investigate cerebellar functional connectivity changes in glaucoma by comparing 32 glaucoma subjects and 10 age-matched healthy control subjects who underwent resting-state functional magnetic resonance imaging at 3 Tesla with eyes closed. After conducting both regions-of-interest and seed-to-voxel analyses, we …


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