Ophthalmology Commons^™

Bilateral Mastectomy, Choroidal Mass: A Curve Ball., Phillip Gordon, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

Comparison Of Germline Versus Somatic Bap1 Mutations For Risk Of Metastasis In Uveal Melanoma., K. G. Ewens, E. Lalonde, J. Richards-Yutz, C. L. Shields, A. Ganguly

Wills Eye Hospital Papers

BACKGROUND: Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal cell carcinoma. Alternatively, somatic mutations in BAP1 in UM have been associated with high risk for metastasis. In this study, we compare the risk of metastasis in UM that carry germline versus somatic BAP1 mutations and mutation-negative tumors.

METHODS: DNA extracted from 142 UM and matched blood samples was sequenced using Sanger or next generation sequencing to identify BAP1 gene mutations.

RESULTS: Eleven of 142 UM (8%) carried …

Unilateral Macular Drusen In A Young Female., Kareem Sioufi, Katherine E Talcott, Marc J Spirn

Wills Eye Hospital Papers

No abstract provided.

Microtubule-Associated Protein 1 Light Chain 3b, (Lc3b) Is Necessary To Maintain Lipid-Mediated Homeostasis In The Retinal Pigment Epithelium., Anuradha Dhingra, Brent A Bell, Neal S. Peachey, Lauren L. Daniele, Juan Reyes-Reveles, Rachel C. Sharp, Bokkyoo Jun, Nicolas G. Bazan, Janet R. Sparrow, Hye Jin Kim, Nancy J. Philp, Kathleen Boesze-Battaglia

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Like other neurons, retinal cells utilize autophagic pathways to maintain cell homeostasis. The mammalian retina relies on heterophagy and selective autophagy to efficiently degrade and metabolize ingested lipids with disruption in autophagy associated degradation contributing to age related retinal disorders. The retinal pigment epithelium (RPE) supports photoreceptor cell renewal by daily phagocytosis of shed photoreceptor outer segments (OS). The daily ingestion of these lipid-rich OS imposes a constant degradative burden on these terminally differentiated cells. These cells rely on Microtubule-Associated Protein 1 Light Chain 3 (LC3) family of proteins for phagocytic clearance of the ingested OS. The LC3 family comprises …

Frequency Of Ocular Emergencies In A Tertiary Care Setting In Karachi, Pakistan: It Is Time To Reduce Unnecessary Visits, Rashid Baig, Khabir Ahmad, Sidra Zafar, Nadeem Ullah Khan, Areeb Ashfaq

Section of Ophthalmology

Objective: To examine the frequency of ocular emergencies received in a tertiary care setting..
Methods: This retrospective clinical audit was undertaken at the Emergency Department of the Aga Khan University Hospital, Karachi, and comprised data of all individuals who presented between January and October 2016. The department's triage database was used to retrieve the data on patient's age, gender, presenting complaints, time and date of presentation. Data was analyzed using SPSS 19.
Results: Of the 74729 individuals who presented, 928 (1.2%) presented with ocular complaints. The age range with the highest total number of visits was 0-9 years followed by …

Pretty Peachy., Li-Anne Lim, Basil K. Williams, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

Lacrimal Gland Tumors In Turkey: Types, Frequency, And Outcomes., Yağmur Seda Yeşiltaş, Ahmet Kaan Gündüz, Esra Erden, Carol L. Shields

Wills Eye Hospital Papers

AIM: To evaluate the clinical, radiological, and treatment features of lacrimal gland tumors.

METHODS: Retrospective review of 99 eyes of 92 patients with lacrimal gland tumors diagnosed and managed in a single institution between January 1999 and March 2017. Clinical and radiological features, histopathology, treatment methods, and prognosis were evaluated.

RESULTS: The mean patient age was 40.3 (range: 7-80)y. The diagnosis was made histopathologically in 91 (91.9%) tumors and on a clinical and radiological basis in 8 (8.1%) tumors. Final diagnoses included idiopathic orbital inflammation (pseudotumor) in 46 (46.5%) lesions, pleomorphic adenoma in 14 (14.1%), adenoid cystic carcinoma in 12 …

Sub-Retinal Abscess As Presenting Feature Of Endogenous Candida Endophthalmitis, Sidra Zafar, Rehman Siddiqui

Section of Ophthalmology

Background: Sub-retinal abscess as the presenting feature in the setting of endogenous fungal endophthalmitis is extremely infrequent. Immunodeficiency states are major predisposing risk factors. To the best of our knowledge, this is the first case report of Candida sub-retinal abscess as initial presentation in an immunocompetent patient.
Case Presentation: A 32-year old, generally fit and well, female presented to us with gradually deteriorating vision in her right eye. Visual acuity was counting fingers in the right eye and, 20/30 in the left eye. Right eye fundus examination showed a full thickness, yellowish-white foveal lesion, and significant vitreous haze. Left …

Ectopic Follicular Variant Of Papillary Thyroid Carcinoma In Anterior Mediastinum With A Normal Thyroid Gland: A Case Report, Farida Karim, Hina Inam, Usama Khalid Choudry, Saulat Hasnain Fatimi

Section of Ophthalmology

Introduction: Ectopic thyroid is rare, especially in the anterior mediastinum. Furthermore, true malignant transformation in ectopic location with normal orthotopic gland is exceptionally unusual. The authors have tried to put forward a challenging case of a malignant mediastinal mass managed successfully via a multidisciplinary approach.
Presentation of Case: We report the case of a 55 year old female with ectopic follicular variant of papillary thyroid cancer in the anterior mediastinum with no disease in the thyroid gland. Subsequently, complete excision of the mediastinal mass and total thyroidectomy was done followed by radio-iodine ablation with radiotherapy. Patient showed good uneventful recovery …

Visual Field Changes In Professional Wind Versus Non-Wind Musical Instrument Players In The Philadelphia Orchestra, Shuai‑Chun Lin, Cindy X. Zheng, Michael Waisbourd, Jeanne Molineaux, Lichuan Zeng, Tingting Zhan, Kamran Rahmatnejad, Arthur Resende, Anand V. Mantravadi, Lisa A. Hark, Marlene R. Moster, Joseph I. Markoff, George L. Spaeth, L. Jay Katz

Department of Pharmacology and Experimental Therapeutics Faculty Papers

Purpose: We compare the prevalence of glaucoma in professional wind versus non‑wind instrument players in the Philadelphia Orchestra. Visual field changes in individuals with glaucoma and glaucoma suspects were evaluated, and the results were correlated with cumulative practice time. Methods: In this cross‑sectional, observational study, fifty‑one Philadelphia Orchestra musicians were enrolled and categorized as wind or non‑wind instrument players. All study participants underwent screening fundus photography. Participants with optic discs suspicious for glaucoma underwent further evaluation, including standard automated visual field perimetry and a comprehensive eye examination by a glaucoma specialist. Results: Of the 51 musicians enrolled, 9 of …

Screening Amblyopic Risk Factors In A Pediatric Population Using An Automated Vision Screener, Rebecca Dawn Slominski

Evidence-Based Practice Project Reports

Amblyopia is the most common visual disorder in children and is potentially curable if detected early and treated properly in the first few years of life. Amblyopia is the leading cause of monocular vision loss in children (Bradfield, 2013). It is a developmental neuroplasticity which derives from birth causing structural and functional changes in the eye and brain. With this structural and functional disruption, visual blur occurs due to refractive amblyopia, strabismic amblyopia, cataracts (form-deprivation amblyopia), or a combination of any of these (Solebo, Cumberland, & Rahi, 2015). Refractive errors related to amblyopia can also occur. The purpose of this …

Ophthalmic Manifestations Of Heimler Syndrome Due To Pex6 Mutations., Nutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, Avrey Thau, Jenina Capasso, Reuven Sharony, Chris F. Inglehearn, Alex V. Levin

Wills Eye Hospital Papers

BACKGROUND/AIMS: Pigmentary retinal dystrophy and macular dystrophy have been previously reported in Heimler syndrome due to mutations in PEX1. Here we reported the ocular manifestations in Heimler syndrome due to mutations in PEX6.

MATERIALS AND METHODS: Medical records were reviewed to identify patient demographics, ophthalmic and systemic findings, and results of diagnostic testing including whole genome sequencing.

RESULTS: Patient 1 is 12-year-old boy with a novel mutation c.275T>G (p.Val92Gly) and known mutation c.1802G>A (p.Arg601Gln) in PEX6. Patient 2 is a 7-year-old girl with the same known c.1802G>A (p.Arg601Gln) mutation and another novel missense mutation c.296G>T (p.Arg99Leu). …

The Comparison Of Spectral Domain Optical Coherence Tomography (Sd-Oct) To Histopathology In A Patient With Diffuse Macular Drusen, Harold Salmons, Ralph Eagle, Md

Department of Pathology Honors Program Student Research Symposium

Background: Spectral Domain Optical Coherence Tomography (SD-OCT) has become a gold standard technique in ophthalmologic practice, and has revolutionized the diagnosis and treatment of retinal disease. As SD-OCT uses low interference interferometry and mathematical algorithms to produce detailed theoretical cross-sectional images of the retina, it is crucial to examine correlations between SD-OCT images and their corresponding histopathologic slides.

Methods: In the present study, careful correlative light microscopy was performed on the eye that was enucleated from an elderly patient who had a uveal melanoma and early agerelated macular degeneration evident clinically as soft drusen. SD-OCT was performed prior to enucleation …

Quantifying Microvascular Changes Using Oct Angiography In Diabetic Eyes Without Clinical Evidence Of Retinopathy, Yasin Alibhai, Eric M. Moult, Rida Shahzad, Carl B. Rebhun, Carlos Moreira-Neto, Mitchell Mcgowan, Diane Lee, Byungkun Lee, James G. Fujimoto, Nadia K. Waheed

Section of Ophthalmology

Objective: To compare quantitative OCT angiography (OCTA) parameters of macular ischemia in diabetic eyes without retinopathy with those in healthy nondiabetic controls.
Design: Cross-sectional study from August 2014 through June 2017.
Subjects: Thirty-nine eyes of 39 diabetic patients without clinical evidence of diabetic retinopathy and 40 eyes of 40 healthy nondiabetic subjects.
Methods: Subjects underwent OCTA imaging using prototype AngioVue software (RTVue XR Avanti). Analyses of the foveal avascular zone (FAZ) and vasculature surrounding the FAZ were performed on the automatically generated en face OCTA images of the superficial and deep retinal vasculatures using vessel-based and FAZ-based metrics.
Main Outcome …

Incidence Of Ocular Hypertension After Intravitreal Injection Of 2 Mg Triamcinolone Acetonide (Ivt), Jake Goodman, Bs, Maitri Pancholy, Bs, Philip Storey, Md, Mph, Anthony Obeid, Md, Durga Borkar, Md, Carl Regillo, Md, Daniel Su, Md

Sigma Xi Student Research Day

Purpose

To report the incidence of OHT following injection of 2mg IVT

Long-Term Visual Outcomes In Optic Nerve Sheath Meningiomas Following Fractionated Stereotactic Radiotherapy, Sana Dastgheyb, Christian Fernandez, Md, Maria Werner-Wasik, Md, Voichita Bar-Ad, Md, David Andrews Md, James Evans, Md, Kevin Judy, Md, Sara Lally, Md, Carol Shields, Md, Arman Mashayekhi, Md, Wenyin Shi, Md, Phd, Christopher Farrell, Md

Sigma Xi Student Research Day

Introduction

Radiation therapy is often used for tumors of the optic nerve. The challenge with irradiating tumors surrounding structures associated with the eye is the risk of exposing the optic nerve, or other structures important to maintaining vision to potentially damaging radiation.

Fractionated stereotactic radiotherapy (FSRT) is commonly used for the treatment of optic nerve sheath meningiomas (ONSMs) for vision preservation. However, long term visual data in the literature is limited. We investigated visual outcomes in 27 patients with ONSMs after FSRT.

Differential Diagnosis Of Pan-Uveitis: Behçet’S Disease, Peter Blosser, Remil Simon, Courtney Ridner

Appalachian Student Research Forum

This report describes the case of a 56-year-old man who presented with blurry vision, increased intraocular pressure, and conjunctival injection after posterior chamber intraocular lens implantation. Initially post-operative endophalmitis and foreign body inflammation were considered as differential diagnoses, but after further examination pan-uveitis was diagnosed. Uveitis is an ocular finding that may indicate several diseases, one of which is Behçet’s Disease. During the interview, the patient mentioned a history of apthous ulcers and genital ulcers which then lead to the clinical diagnosis of Behçet’s Disease. This report emphasizes that Behçet’s Disease is rare in Caucasians. Therefore, is frequently misdiagnosed in …

Mud-Splattered Fundus, Roger Joel Welch, Xintong Li, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

Submillimeter Retinoblastoma Monitoring Following Transpupillary Thermotherapy Using Hand-Held Optical Coherence Tomography, Mark Mcgarrey, Thamolwan Surakiatchanukul, Carol L. Shields

Wills Eye Hospital Papers

Background: Precise, submillimeter visualization of retinal microstructures is useful for treatment monitoring of retinoblastoma. Herein, we report the use of hand-held optical coherence tomography (HH-OCT) to document a nearly-invisible retinoblastoma and monitor tumor response to transpupillary thermotherapy (TTT). Case presentation: A 3-week-old boy was diagnosed with unilateral familial retinoblastoma in the left eye, classified as group B, and treated with intravenous chemoreduction. At 13-month follow-up, the tumor in the left eye was regressed, and evaluation of the right eye revealed a microscopic, nearly invisible tumor measuring 372 μm in thickness and 1.51 mm in basal dimension. The tumor was confirmed …

Novel Combination Bmp7 And Hgf Gene Therapy Instigates Selective Myofibroblast Apoptosis And Reduces Corneal Haze In Vivo, Suneel Gupta, Michael K. Fink, Arkasubhra Ghosh, Ratnakar Tripathi, Prashant R. Sinha, Ajay Sharma, Nathan P. Hesemann, Shyam S. Chaurasia, Elizabeth A. Giuliano, Rajiv R. Mohan

Pharmacy Faculty Articles and Research

PURPOSE. We tested the potential of bone morphogenic protein 7 (BMP7) and hepatocyte growth factor (HGF) combination gene therapy to treat preformed corneal fibrosis using established rabbit in vivo and human in vitro models.

METHODS. Eighteen New Zealand White rabbits were used. Corneal fibrosis was produced by alkali injury. Twenty-four hours after scar formation, cornea received topically either balanced salt solution (BSS; n ¼ 6), polyethylenimine-conjugated gold nanoparticle (PEI2-GNP)-naked plasmid (n ¼ 6) or PEI2-GNP plasmids expressing BMP7 and HGF genes (n ¼ 6). Donor human corneas were used to obtain primary human corneal fibroblasts and myofibroblasts for mechanistic studies. …