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Articles 31 - 60 of 116
Full-Text Articles in Ophthalmology
Stargardt’S: Trends In Treatment Modalities, Dallas Myers
Stargardt’S: Trends In Treatment Modalities, Dallas Myers
Theses and Graduate Projects
Background: This review is aimed at furthering understanding of Stargardt’s, including disease pathophysiology, treatment methods, and the future of vision restoration.
Purpose: Stargardt’s (STGD) was initially discovered in 1909, but it was not fully understood until 1997. It is the most common form of inherited macular degeneration. There are few resources for patients and providers regarding treatment options and lifestyle recommendations.
Methods: A comprehensive literature review was conducted using NIH, UpToDate, and Google Scholar. Specific terms are further detailed in the review. Inclusion criteria were studies focused on STGD patients. Exclusion criteria for were those that only …
Pediatric Open-Globe Injury: Current Perspectives, Surgical Principles, And Literature Review, Jovi C. Y. Wong, Yoshihiro Yonekawa
Pediatric Open-Globe Injury: Current Perspectives, Surgical Principles, And Literature Review, Jovi C. Y. Wong, Yoshihiro Yonekawa
Wills Eye Hospital Papers
Open-globe injury (OGI), referring to the full-thickness violation of the eye wall, is a severe consequence of ocular trauma which can lead to permanent vision loss. Here, we review the current literature on pediatric OGI including a focused review of studies published in the past 10 years. Scoring systems for final visual prognosis, important aspects of clinical examination, and imaging at the point of care are discussed. We furthermore provide an overview of primary and secondary surgical management of the initial OGI and sequelae. Amblyopia management differentiates pediatric from adult visual rehabilitation following OGI, and we discuss the current state-of-the-art …
Transformer-Based Deep Learning Prediction Of 10-Degree Humphrey Visual Field Tests From 24-Degree Data, Min Shi, Anagha Lokhande, Yu Tian, Yan Luo, Mohammad Eslami, Saber Kazeminasab, Tobias Elze, Lucy Shen, Louis Pasquale, Sarah Wellik, Carlos Gustavo De Moraes, Jonathan Myers, Nazlee Zebardast, David Friedman, Michael Boland, Mengyu Wang
Transformer-Based Deep Learning Prediction Of 10-Degree Humphrey Visual Field Tests From 24-Degree Data, Min Shi, Anagha Lokhande, Yu Tian, Yan Luo, Mohammad Eslami, Saber Kazeminasab, Tobias Elze, Lucy Shen, Louis Pasquale, Sarah Wellik, Carlos Gustavo De Moraes, Jonathan Myers, Nazlee Zebardast, David Friedman, Michael Boland, Mengyu Wang
Wills Eye Hospital Papers
PURPOSE: To predict 10-2 Humphrey visual fields (VFs) from 24-2 VFs and associated non-total deviation features using deep learning.
METHODS: We included 5189 reliable 24-2 and 10-2 VF pairs from 2236 patients, and 28,409 reliable pairs of macular OCT scans and 24-2 VF from 19,527 eyes of 11,560 patients. We developed a transformer-based deep learning model using 52 total deviation values and nine VF test features to predict 68 10-2 total deviation values. The mean absolute error, root mean square error, and the R2 were evaluation metrics. We further evaluated whether the predicted 10-2 VFs can improve the structure-function relationship …
Impact Of Tumor Pigmentation In 6934 Patients With Uveal Melanoma At A Single Center, Samuel Goldstein, Ferris Bayasi, George Thomas, Matthew Barke, Michael Nguyen, Samantha Pastore, Carol Shields
Impact Of Tumor Pigmentation In 6934 Patients With Uveal Melanoma At A Single Center, Samuel Goldstein, Ferris Bayasi, George Thomas, Matthew Barke, Michael Nguyen, Samantha Pastore, Carol Shields
Wills Eye Hospital Papers
Purpose: To evaluate clinical features and outcomes associated with degree of tumor pigmentation in patients with uveal melanoma (UM) of the choroid and ciliary body. Design: Retrospective observational study. Subjects: Six thousand nine hundred thirty-four consecutive patients with choroidal or ciliary body melanoma between 1971 and 2007 from a single ocular oncology center. Methods: Data on patient demographics, tumor characteristics, treatment approach, and clinical outcomes were collected. Comparisons between pigmented (>80% pigmentation by surface area), partially pigmented (20%–80%), and nonpigmented tumors (<20%) were performed using relevant hypothesis testing. Survival analyses for metastasis and melanoma-related death were conducted using the Kaplan–Meier method with log-rank tests for univariate comparisons. A multivariate Cox regression analysis was performed to assess the independent effects of multiple covariates on time-to-metastasis. Main Outcome Measures: Extraocular extension, ocular melanocytosis, time to tumor recurrence, tumor location, and melanoma-related metastasis and death. Results: There were 6934 eyes with UM and the degree of tumor pigmentation was classified as pigmented (n = 3762; 54%), partially pigmented (n = 2115; 31%), or nonpigmented (n = 1057; 15%). Pigmented UM was associated with extraocular extension (P < 0.001), ocular melanocytosis (P = 0.003), earlier tumor recurrence (P < 0.001), and more anterior tumor epicenter location (ciliary body, and equator to ora serrata) (P < 0.001). Pigmented UMs also exhibited the highest 10-year metastasis rate at 26%, compared with 19% for partially pigmented UMs and 16% for nonpigmented UMs (P < 0.001). Kaplan–Meier survival curves demonstrated differences among the tumor pigmentation groups for melanoma-related metastasis (P < 0.001) and melanoma-related death (P < 0.001). Multivariate Cox regression analysis for melanoma-related metastasis showed that pigmented UMs had a 29% higher relative risk of developing metastasis compared with partially pigmented UMs (P = 0.002) and a 54% higher relative risk of developing metastasis compared with nonpigmented UMs (P < 0.001). Conclusions: Pigmented choroidal and ciliary body melanoma is more often associated with ocular melanocytosis, extraocular extension, anterior tumor epicenter, and earlier tumor recurrence. We also revealed that patients with pigmented UMs demonstrate a higher 10-year rate of metastatic disease and have decreased metastatic survival relative to partially pigmented and nonpigmented UMs. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Predicting Choroidal Nevus Transformation To Melanoma Using Machine Learning, Prashant D. Tailor, Piotr K. Kopinski, Haley S. D'Souza, David A. Leske, Timothy W. Olsen, Carol L. Shields, Jerry A. Shields, Lauren A. Dalvin
Predicting Choroidal Nevus Transformation To Melanoma Using Machine Learning, Prashant D. Tailor, Piotr K. Kopinski, Haley S. D'Souza, David A. Leske, Timothy W. Olsen, Carol L. Shields, Jerry A. Shields, Lauren A. Dalvin
Wills Eye Hospital Papers
PURPOSE: To develop and validate machine learning (ML) models to predict choroidal nevus transformation to melanoma based on multimodal imaging at initial presentation.
DESIGN: Retrospective multicenter study.
PARTICIPANTS: Patients diagnosed with choroidal nevus on the Ocular Oncology Service at Wills Eye Hospital (2007-2017) or Mayo Clinic Rochester (2015-2023).
METHODS: Multimodal imaging was obtained, including fundus photography, fundus autofluorescence, spectral domain OCT, and B-scan ultrasonography. Machine learning models were created (XGBoost, LGBM, Random Forest, Extra Tree) and optimized for area under receiver operating characteristic curve (AUROC). The Wills Eye Hospital cohort was used for training and testing (80% training-20% testing) with …
Contributions Of Brain Microstructures And Metabolism To Visual Field Loss Patterns In Glaucoma Using Archetypal And Information Gain Analyses, Yueyin Pang, Ji Won Bang, Anisha Kasi, Jeremy Li, Carlos Parra, Els Fieremans, Gadi Wollstein, Joel S. Schuman, Mengyu Wang, Kevin C Chan
Contributions Of Brain Microstructures And Metabolism To Visual Field Loss Patterns In Glaucoma Using Archetypal And Information Gain Analyses, Yueyin Pang, Ji Won Bang, Anisha Kasi, Jeremy Li, Carlos Parra, Els Fieremans, Gadi Wollstein, Joel S. Schuman, Mengyu Wang, Kevin C Chan
Wills Eye Hospital Papers
PURPOSE: To investigate the contributions of the microstructural and metabolic brain environment to glaucoma and their association with visual field (VF) loss patterns by using advanced diffusion magnetic resonance imaging (dMRI), proton magnetic resonance spectroscopy (MRS), and clinical ophthalmic measures.
METHODS: Sixty-nine glaucoma and healthy subjects underwent dMRI and/or MRS at 3 Tesla. Ophthalmic data were collected from VF perimetry and optical coherence tomography. dMRI parameters of microstructural integrity in the optic radiation and MRS-derived neurochemical levels in the visual cortex were compared among early glaucoma, advanced glaucoma, and healthy controls. Multivariate regression was used to correlate neuroimaging metrics with …
Ocular Gene Transfer In The Spotlight: Implications Of Newspaper Content For Clinical Communications, Shelly Benjaminy, Tania M. Bubela
Ocular Gene Transfer In The Spotlight: Implications Of Newspaper Content For Clinical Communications, Shelly Benjaminy, Tania M. Bubela
Office of the Provost
Background: Ocular gene transfer clinical trials are raising hopes for blindness treatments and attracting media attention. News media provide an accessible health information source for patients and the public, but are often criticized for overemphasizing benefits and underplaying risks of novel biomedical interventions. Overly optimistic portrayals of unproven interventions may influence public and patient expectations; the latter may cause patients to downplay risks and over-emphasize benefits, with implications for informed consent for clinical trials. We analyze the news media communications landscape about ocular gene transfer and make recommendations for improving communications between clinicians and potential trial participants in light of …
The Latest Ic3d Classification Of Corneal Dystrophies—Overview And Changes Of The 3rd Edition, Tim Berger, Jayne S. Weiss, Walter Lisch, Berthold Seitz
The Latest Ic3d Classification Of Corneal Dystrophies—Overview And Changes Of The 3rd Edition, Tim Berger, Jayne S. Weiss, Walter Lisch, Berthold Seitz
School of Medicine Faculty Publications
The International Committee on Classification of Corneal Dystrophies (IC3D) was founded in 2005 to address difficulties arising from the outdated nomenclature for corneal dystrophies (CD) and to correct misconceptions in the literature. For each of the 22 CDs, a separate template was created to represent the current clinical, pathological and genetic knowledge of the disease. In addition, each template contains representative clinical photographs as well as light and electron microscopic images and, if available, confocal microscopic and coherence tomographic images of the respective CD. After the first edition was published in 2008, the revised version followed in 2015. The third …
Wide-Field Optical Coherence Tomography Imaging Improves Rate Of Change Detection In Progressing Glaucomatous Eyes Compared With Standard-Field Imaging, Christopher Bowd, Akram Belghith, Jasmin Rezapour, Jost B. Jonas, Leslie Hyman, Robert N. Weinreb, Linda M. Zangwill
Wide-Field Optical Coherence Tomography Imaging Improves Rate Of Change Detection In Progressing Glaucomatous Eyes Compared With Standard-Field Imaging, Christopher Bowd, Akram Belghith, Jasmin Rezapour, Jost B. Jonas, Leslie Hyman, Robert N. Weinreb, Linda M. Zangwill
Wills Eye Hospital Papers
PURPOSE: To compare rates of retinal nerve fiber layer change over time in healthy, eyes with nonprogressing glaucoma and eyes with progressing glaucoma using single wide-field (SWF) and optic nerve head (ONH) cube scan optical coherence tomography (OCT) images.
METHODS: Forty-five eyes of 25 healthy individuals and 263 eyes of 161 glaucoma patients from the Diagnostic Innovations in Glaucoma Study were included. All eyes underwent 24-2 visual field testing and OCT (Spectralis SD-OCT) ONH and macular imaging. SWF images (up to 43° × 28°) were created by stitching together ONH cube scans centered on the optic disc and macular cube …
A Comparison Of Icare And Goldmann Applanation Tonometry Measurements During The Covid-19 Pandemic: A Retrospective Study, Shreya Swaminathan, Amber M. Kisielewski, M. Hossein Nowroozzadeh, Shahin Hallaj, Daniel Lee, Natasha N. Kolomeyer, Jonathan S. Myers, Reza Razeghinejad
A Comparison Of Icare And Goldmann Applanation Tonometry Measurements During The Covid-19 Pandemic: A Retrospective Study, Shreya Swaminathan, Amber M. Kisielewski, M. Hossein Nowroozzadeh, Shahin Hallaj, Daniel Lee, Natasha N. Kolomeyer, Jonathan S. Myers, Reza Razeghinejad
Wills Eye Hospital Papers
PURPOSE: To evaluate factors associated with differences in intraocular pressure (IOP) readings between iCare and Goldmann applanation tonometry (GAT) in established glaucoma patients.
METHODS: This retrospective comparative study included clinical data of 350 eyes from 350 established glaucoma patients who had iCare and GAT IOP measured by an ophthalmic technician and a glaucoma specialist, respectively. The main outcome measure was the difference in IOP measurements of the right eyes with iCare and GAT.
RESULTS: The intraclass correlation coefficient (ICC) between GAT and iCare was 0.90. The mean IOP difference between tonometers was - 0.18 ± 2.89 mmHg. Bland-Altman plots indicated …
Dynamic Angle Closure Following Pars Plana Vitrectomy With Perfluoropropane Gas, Debora H Lee, Melody Ziari, Ruchi D Shah, Gioconda Mojica, Asadolah Movahedan
Dynamic Angle Closure Following Pars Plana Vitrectomy With Perfluoropropane Gas, Debora H Lee, Melody Ziari, Ruchi D Shah, Gioconda Mojica, Asadolah Movahedan
Faculty, Staff and Student Publications
PURPOSE: To report the clinical course of an aphakic patient who developed positional secondary angle closure glaucoma following pars plana vitrectomy (PPV) with perfluoropropane (C3F8) gas tamponade.
OBSERVATIONS: A 23-year-old male presented due to a two-year history of vision loss in the left eye. Best-corrected visual acuity (BCVA) was 20/200 and intraocular pressure (IOP) was 12 mm Hg OS. Exam revealed iridodonesis and aphakia of both eyes, and a total RRD in the left eye. The patient underwent scleral buckle plus PPV with 15 % C3F8 gas and was instructed to maintain face-down positioning for 5 days. On post-operative day …
Understanding The Treatment Paradigm And The Sequencing Of Antiglaucoma Fixed-Dose Combinations In A Tertiary Center In South India, Ronnie George, Praggya Mishra, Balekudaru Shantha, Lingam Vijaya, Nitin Maksane, Neha Gurha
Understanding The Treatment Paradigm And The Sequencing Of Antiglaucoma Fixed-Dose Combinations In A Tertiary Center In South India, Ronnie George, Praggya Mishra, Balekudaru Shantha, Lingam Vijaya, Nitin Maksane, Neha Gurha
Faculty, Staff and Student Publications
PURPOSE: To analyze the medical management of primary open-angle glaucoma (POAG) and ocular hypertension (OHT) and the placement of fixed-drug combination drugs (FDC) in the treatment paradigm at a tertiary eye care center in South India.
METHODS: Retrospective study (January 2011-December 2015) of newly diagnosed POAG and OHT patients (≥18 years) with ≥5 years follow-up. Primary outcome included percentage use of different antiglaucoma drugs (at initiation) and FDCs at the first, second, and third progression (sequencing). Secondary outcomes: Percentage discontinuation for different FDCs, efficacy parameters (decrease in intraocular pressure (IOP)/visual field), adverse events, and the median number of antiglaucoma medications …
Fetal Brain-Derived Exosomal Mirnas From Maternal Blood: Potential Diagnostic Biomarkers For Fetal Alcohol Spectrum Disorders (Fasds), Nune Darbinian, Monica Hampe, Diana Martirosyan, Ahsun Bajwa, Armine Darbinyan, Nana Merabova, Gabriel Tatevosian, Laura Goetzl, Shohreh Amini, Michael E Selzer
Fetal Brain-Derived Exosomal Mirnas From Maternal Blood: Potential Diagnostic Biomarkers For Fetal Alcohol Spectrum Disorders (Fasds), Nune Darbinian, Monica Hampe, Diana Martirosyan, Ahsun Bajwa, Armine Darbinyan, Nana Merabova, Gabriel Tatevosian, Laura Goetzl, Shohreh Amini, Michael E Selzer
Faculty, Staff and Student Publications
Fetal alcohol spectrum disorders (FASDs) are leading causes of neurodevelopmental disability but cannot be diagnosed early in utero. Because several microRNAs (miRNAs) are implicated in other neurological and neurodevelopmental disorders, the effects of EtOH exposure on the expression of these miRNAs and their target genes and pathways were assessed. In women who drank alcohol (EtOH) during pregnancy and non-drinking controls, matched individually for fetal sex and gestational age, the levels of miRNAs in fetal brain-derived exosomes (FB-Es) isolated from the mothers’ serum correlated well with the contents of the corresponding fetal brain tissues obtained after voluntary pregnancy termination. In six …
Dynamic Visual Acuity, Vestibulo-Ocular Reflex, And Visual Field In National Football League (Nfl) Officiating: Physiology And Visualization Engineering For 3d Virtual On-Field Training, Joshua Ong, Nicole V Carrabba, Ethan Waisberg, Nasif Zaman, Hamza Memon, Nicholas Panzo, Virginia A Lee, Prithul Sarker, Ashtyn Z Vogt, Noor Laylani, Alireza Tavakkoli, Andrew G Lee
Dynamic Visual Acuity, Vestibulo-Ocular Reflex, And Visual Field In National Football League (Nfl) Officiating: Physiology And Visualization Engineering For 3d Virtual On-Field Training, Joshua Ong, Nicole V Carrabba, Ethan Waisberg, Nasif Zaman, Hamza Memon, Nicholas Panzo, Virginia A Lee, Prithul Sarker, Ashtyn Z Vogt, Noor Laylani, Alireza Tavakkoli, Andrew G Lee
Faculty, Staff and Student Publications
The ability to make on-field, split-second decisions is critical for National Football League (NFL) game officials. Multiple principles in visual function are critical for accuracy and precision of these play calls, including foveation time and unobstructed line of sight, static visual acuity, dynamic visual acuity, vestibulo-ocular reflex, and sufficient visual field. Prior research has shown that a standardized curriculum in these neuro-ophthalmic principles have demonstrated validity and self-rated improvements in understanding, confidence, and likelihood of future utilization by NFL game officials to maximize visual performance during officiating. Virtual reality technology may also be able to help optimize understandings of specific …
Clearing The Light Path: Proteoglycans And Their Important Roles In The Lens And Cornea, Mary Ann Stepp, A. Sue Menko
Clearing The Light Path: Proteoglycans And Their Important Roles In The Lens And Cornea, Mary Ann Stepp, A. Sue Menko
Department of Pathology, Anatomy, and Cell Biology Faculty Papers
Some of the earliest studies of glycans were performed on mammalian corneas and lenses with many of the key concepts we currently recognize as being fundamental to our understanding of basic cell biology arising from these studies. Proteoglycans and their GAG side chains are essential components of the ECM of the lens capsule. They also are present in the anterior corneal epithelial basement membrane and the posterior (Decemet's) basement membrane, and they organize collagen fiber diameters and spacing in the corneal stroma to maintain stromal clarity. Studies using genetically engineered mice and characterization of spontaneously arising mutations in genes controlling …
Identification And Management Of Exposure Keratopathy In The Critical Care Setting, Susanna Betti, Harrison Bell, Erika Yoo, David Oxman
Identification And Management Of Exposure Keratopathy In The Critical Care Setting, Susanna Betti, Harrison Bell, Erika Yoo, David Oxman
Health Equity and Quality Improvement (HEQI) Summit
Background
- Exposure keratopathy (EK) refers to corneal damage and ocular epithelial breakdown.
- It can result from prolonged exposure of the eye to the outside environment, often from incomplete eyelid closure or tear film defect.
- Increasingly common in critical care settings, up to 60%
- Mechanical ventilation, sedation, paralysis
- Medications (neuromuscular blockade)
- Impaired blink reflex, reduced tear production
- Fluid imbalance, increased vascular permeability
- Complications include corneal scarring, perforation, and blindness.
- Current recommendations: scheduled artificial tears with nightly lubricating ointment, tarsorrhaphy to close lids
Public Perception Of Robotic Assisted Total Hip Replacement Surgery, Marvee Espiritu, James E. Feng, Phillip Vartanyan, Drew Moore, Robert Moore, Mark Karadsheh
Public Perception Of Robotic Assisted Total Hip Replacement Surgery, Marvee Espiritu, James E. Feng, Phillip Vartanyan, Drew Moore, Robert Moore, Mark Karadsheh
Posters
- Robotic or technology assisted THA has received significant attention recently due to its precision in acetabular cup placement within the Lewinnek safe zone.1
- Few studies have assessed the public’s perception of robotic-assisted THA.3,4 Insight into patients’ perception of robotic-assisted THA may yield valuable information that may impact further integration of the technology within hospitals and surgeon training.
Accuracy Of Ora And Newer Generation Formulas For Iol Power Calculation After Prior Refractive Surgery, Raheel Khan, Mark Rolain
Accuracy Of Ora And Newer Generation Formulas For Iol Power Calculation After Prior Refractive Surgery, Raheel Khan, Mark Rolain
Posters
- Patients with cataracts have cloudiness of the lens that impairs vision.
- It must be replaced with a prosthetic lens however the lens’ refractive power has to be calculated using formulas to predict the kind of lens that will be implanted for best visual outcomes.
- Patients that have had prior refractive surgery of the cornea do not have as good refractive outcomes after cataract surgery.1
- The concern is that there is not a goldstandard formula that can be used for this population to predict the refractive power of the lens that should be implanted.
- Optiwave refractive analysis (ORA) is a new …
Coats And Coats-Like Retinopathy In Female Patients, Zara Saleem, Drew Scoles, Antonio Capone Jr
Coats And Coats-Like Retinopathy In Female Patients, Zara Saleem, Drew Scoles, Antonio Capone Jr
Posters
To report the presentation, stage, clinical characteristics, and course of female patients with Coats and Coats-like retinopathy.
Near-Surface Dose Correlates With Moist Desquamation And Unplanned Reconstructive Surgery In Patients With Implant-Based Reconstruction Receiving Postmastectomy Radiation Therapy, Patrick Thrasher, Ronald Levitin, Bryan S. Squires, Allison J. Hazy, Michael J. Maywood, Anthony P. Delise, Muayad F. Almahariq, Nayana Dekhne, Lauren Oliver, Peter Y. Chen, Kailee J. Walters, Diane Dudley, Joshua T. Dilworth
Near-Surface Dose Correlates With Moist Desquamation And Unplanned Reconstructive Surgery In Patients With Implant-Based Reconstruction Receiving Postmastectomy Radiation Therapy, Patrick Thrasher, Ronald Levitin, Bryan S. Squires, Allison J. Hazy, Michael J. Maywood, Anthony P. Delise, Muayad F. Almahariq, Nayana Dekhne, Lauren Oliver, Peter Y. Chen, Kailee J. Walters, Diane Dudley, Joshua T. Dilworth
Posters
Postmastectomy radiation therapy (PMRT) utilized as part of a breast cancer treatment regimen reduces the risk of disease recurrence in appropriately selected patients.1,2,3,4,5 However, PMRT increases risk of radiationrelated toxicities that can interfere with breast reconstruction post-mastectomy.6 Following mastectomy, implant-based reconstruction can increase patient satisfaction and quality of life7,8; complications induced by PMRT such as infection and tissue contracture, though, increase risk for implant loss and may ultimately require further surgeries for the patient.
PMRT is delivered based on treatment plans that are optimized to provide appropriate radiation dosages to tissues along the chest wall while simultaneously limiting exposure of …
A Novel Targeted-Sequencing Panel To Detect Lrp5 Gene Variants In Orphan Pediatric Retinal Diseases, Daeun Jeong, Kenneth P. Mitton, Kimberly A. Drenser
A Novel Targeted-Sequencing Panel To Detect Lrp5 Gene Variants In Orphan Pediatric Retinal Diseases, Daeun Jeong, Kenneth P. Mitton, Kimberly A. Drenser
Posters
Orphan pediatric retinal diseases which encompass Familial exudative vitreoretinopathy (FEVR), Norrie Disease, and Retinoschisis are associated with mutations in genes involved in the Wnt signaling network, including FZD4, LRP5, TSPAN12, and NDP. See figure-1. FEVR is a retinal disease that lacks normal vascularization and angiogenesis to the peripheral retina. LRP5 variants account for 10-25% of cases of autosomal dominant FEVR. However, not all cases have been linked to these existing variants. Next generation sequencing was used to sequence 76 subjects for novel variants to expand the spectrum of LRP5 variants and better understand the mechanism of pathogenicity.
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
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, …
Outcomes Of Infectious Panuveitis Associated With Simultaneous Multi-Positive Ocular Fluid Polymerase Chain Reaction, Viet Q. Chau, John W. Hinkle, Chris Y. Wu, Parastou Pakravan, Vincent Volante, Jesse D. Sengillo, Patrick C. Staropoli, Darlene Miller, Nicolas A. Yannuzzi, Thomas A. Albini
Outcomes Of Infectious Panuveitis Associated With Simultaneous Multi-Positive Ocular Fluid Polymerase Chain Reaction, Viet Q. Chau, John W. Hinkle, Chris Y. Wu, Parastou Pakravan, Vincent Volante, Jesse D. Sengillo, Patrick C. Staropoli, Darlene Miller, Nicolas A. Yannuzzi, Thomas A. Albini
Wills Eye Hospital Papers
PURPOSE: To evaluate features of infectious panuveitis associated with multiple pathogens detected by ocular fluid sampling.
METHODS: Single-center, retrospective, consecutive case series of patients with aqueous/vitreous polymerase chain reaction testing with >1 positive result in a single sample from 2001 to 2021.
RESULTS: Of 1,588 polymerase chain reaction samples, 28 (1.76%) were positive for two pathogens. Most common pathogens were cytomegalovirus (n = 16, 57.1%) and Epstein-Barr virus (n = 13, 46.4%), followed by varicella zoster virus (n = 8, 28.6%), Toxoplasma gondii (n = 6, 21.4%), herpes simplex virus 2 (n = 6, 21.4%), herpes simplex virus 1 (n …
Molecular Characterization Of Kif11 Variants In Familial Exudative Vitreoretinopathy, Konstantinos Koustas, Kenneth P. Mitton, Wendy Dailey, Kimberly A. Drenser
Molecular Characterization Of Kif11 Variants In Familial Exudative Vitreoretinopathy, Konstantinos Koustas, Kenneth P. Mitton, Wendy Dailey, Kimberly A. Drenser
Posters
Pediatric retinal diseases including Familial exudative vitreoretinopathy (FEVR) and Norrie Disease are linked to mutations in Wnt signaling network genes like FZD4, LRP5, TSPAN12, and NDP (see Figure-1). Active Norrin signaling is crucial for the normal growth and proliferation of developing retinal vasculature. Similarly, the absence of KIF11's kinesin activity can hinder the growth and proliferation of retinal vasculature, leading to peripheral avascular neural retina. According to the UniProt database there are about 41 disease causing variants for KIF11, and 17 specifically associated with FEVR. Nextgeneration sequencing was employed to sequence 76 subjects, aiming to identify novel variants to broaden …
Physician-Patient Face Masking’S Influence On Post-Intravitreal Injection Endophthalmitis Rates, Conner Liddle, Antonio Capone Jr, Matthew Trese
Physician-Patient Face Masking’S Influence On Post-Intravitreal Injection Endophthalmitis Rates, Conner Liddle, Antonio Capone Jr, Matthew Trese
Posters
Intravitreal injections (IVI) of anti-vascular endothelial growth factor (VEGF) medications and intravitreal steroids are standard treatment options for variety of retinal diseases. Serial IVIs are often required to achieve disease control, but IVIs are not without risk. Recognized serious complications of IVIs include but are not limited to retinal detachment, vitreous hemorrhage, and acute endophthalmitis.1 Although post-IVI endophthalmitis is uncommon, it is a feared complication because of the potential for irreversible vision loss. Given that IVIs are one of the most commonly performed medical procedures in the United States, it is essential to ensure that steps are taken to mitigate …
Targeted-Sequencing Evaluation For Fzd4 Variants In Familial Exudative Vitreo-Retinopathy, Mary Drekh, Wendy Dailey, Vincent Le, Savyo Krikor, Kimberly A. Drenser, Kenneth P. Mitton
Targeted-Sequencing Evaluation For Fzd4 Variants In Familial Exudative Vitreo-Retinopathy, Mary Drekh, Wendy Dailey, Vincent Le, Savyo Krikor, Kimberly A. Drenser, Kenneth P. Mitton
Posters
- The Familial hereditary vision loss disease may present with symptoms including retinal detachment, folding, neovascularization, or vitreous hemorrhage due to peripheral retina avascularity.
- The manifestation of FEVR genetically has been associated with a loss of function mutation of the Wnt/bcantenin-signaling pathway involving 7 genes (FZD4, NDP, CTNNB1, KIF11, LRP5, TSPAN12, and ZNF408). In our patient population of 72 individuals the distribution of FZD4 gene variants leading to FEVR has been recorded.
- The Frizzled4 gene (FZD4) codes for the G-coupled protein receptor and effects Wnt/b-cantenin-signaling pathway In endothelial cells.
- What frequency of FEVR from our patient pool will have FZD4 variants …
Light Scattering By Vitreous Of Humans With Vision Degrading Myodesopsia From Floaters, Alba M Paniagua-Diaz, Justin H Nguyen, Pablo Artal, Wei Gui, J Sebag
Light Scattering By Vitreous Of Humans With Vision Degrading Myodesopsia From Floaters, Alba M Paniagua-Diaz, Justin H Nguyen, Pablo Artal, Wei Gui, J Sebag
Faculty, Staff and Student Publications
PURPOSE: Vision-degrading myodesopsia (VDM) from vitreous floaters significantly degrades vision and impacts visual quality of life (VQOL), but the relationship to light scattering is poorly understood. This study compared in vitro measures of light scatter and transmission in surgically excised human vitreous to preoperative indexes of vitreous structure, visual function, and VQOL.
METHODS: Pure vitreous collected during vitrectomy from 8 patients with VDM had wide-angle straylight measurements and dark-field imaging, performed within 36 hours of vitrectomy. Preoperative VQOL assessment with VFQ-25, contrast sensitivity (CS) measurements with Freiburg acuity contrast testing, and quantitative ultrasonography were compared to light scattering and transmission …
The Role Of Inflammation In Diabetic Retinopathy In Patients With Type Ii Diabetes; Potential Therapeutic Perspectives, Adriana Georgescu, Ana Dascalu, Daniela Stana, Cristina Alexandrescu, Anca Bobirca, Bogdan Mihai Cristea, Geta Vancea, Crenguta Sorina Serboiu, Dragos Serban, Corneliu Tudor, Andreea Letitia Arsene, Laura Carina Tribus
The Role Of Inflammation In Diabetic Retinopathy In Patients With Type Ii Diabetes; Potential Therapeutic Perspectives, Adriana Georgescu, Ana Dascalu, Daniela Stana, Cristina Alexandrescu, Anca Bobirca, Bogdan Mihai Cristea, Geta Vancea, Crenguta Sorina Serboiu, Dragos Serban, Corneliu Tudor, Andreea Letitia Arsene, Laura Carina Tribus
Journal of Mind and Medical Sciences
Diabetic retinopathy is one of the major causes of visual impairment and blindness in adult population. The pathology is complex, the metabolic changes induced by the hyperglycemic environment leading to neurodegeneration, microvascular damage, with secondary ischemic and inflammatory changes in the retina. This review aims to update the literature data related to the role of inflammation in the onset and progression of diabetic retinopathy. Thus, the molecular and biochemical mechanisms triggered by excess glucose increase the expression of genes involved in inflammatory processes, which leads to the synthesis of inflammatory cytokines such as Il1, Il6, TNF alpha as well as …
Eye Infection Risks From Pseudomonas Aeruginosa Via Hand Soap And Eye Drops, Anna Gitter, Kristina D Mena, Karla S Mendez, Fuqing Wu, Charles P Gerba
Eye Infection Risks From Pseudomonas Aeruginosa Via Hand Soap And Eye Drops, Anna Gitter, Kristina D Mena, Karla S Mendez, Fuqing Wu, Charles P Gerba
Faculty, Staff and Student Publications
Eye infections from bacterial contamination of bulk-refillable liquid soap dispensers and artificial tear eye drops continue to occur, resulting in adverse health outcomes that include impaired vision or eye enucleation. Pseudomonas aeruginosa (P. aeruginosa), a common cause of eye infections, can grow in eye drop containers and refillable soap dispensers to high numbers. To assess the risk of eye infection, a quantitative microbial risk assessment for P. aeruginosa was conducted to predict the probability of an eye infection for two potential exposure scenarios: (i) individuals using bacteria-contaminated eye drops and (ii) contact lens wearers washing their hands with …
Best Screening: Introducing The Neonatal Assessment Visual European Grid To Nicus In Tennessee, Gabrielle Sledge
Best Screening: Introducing The Neonatal Assessment Visual European Grid To Nicus In Tennessee, Gabrielle Sledge
OTD Capstone Projects
Blind Early Services Tennessee (BEST) is an early intervention agency that serves children ages 0-5 with visual impairments across Tennessee. BEST serves over 200 children and families across the state offering early intervention (BEST Start), parent empowerment (BEST Advocate), and family support (BEST Together) programming. The purpose of this project was to assist in the implementation of an early identification initiative (BEST Screening) using the Neonatal Assessment Visual European Grid (NAVEG). The NAVEG is a newborn vision screening shown to identify neurological risk for visual impairments. The long-term goal of this program is to promote the screening and early identification …