Ophthalmology Commons^™

Management Of Retinoblastoma In Older Children (>5 Years) Using Intra-Arterial Chemotherapy: Comparison Of Outcomes To Pre-Chemotherapy And Intravenous Chemotherapy Eras, Evan Selzer, Ms, R. Joel Welch, Md, Pascal Jabbour, Md, Ann Leahey, Md, Carol L. Shields, Md

Phase 1

Introduction: Intra-arterial chemotherapy (IAC) has emerged as an effective treatment for retinoblastoma (RB), but little information exists regarding its use in older patients (>5 years). We evaluate the use of IAC (2008-2018) for RB in older patients and compare outcomes to those in the pre-chemotherapy (<1994) and intravenous chemotherapy (IVC) (1994-2007) eras.

Objective: To evaluate the hypothesis that IAC is effective in managing RB in older patients.

Methods: We performed a retrospective analysis of all patients older than 5 years who were treated with IAC for RB from 2008-2018 on the Ocular Oncology Service at the Wills Eye Hospital. Comparisons were made to historic, …

Just Another Chalazion?, Jonathan Mclaughlin, Sara E. Lally, Carol L. Shields

Wills Eye Hospital Papers

No abstract provided.

An Artificial Intelligence Approach To Detect Visual Field Progression In Glaucoma Based On Spatial Pattern Analysis., Mengyu Wang, Lucy Q. Shen, Louis R. Pasquale, Paul Petrakos, Sydney Formica, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Jonathan S. Myers, Osamah Saeedi, Hui Wang, Neda Baniasadi, Dian Li, Jorryt Tichelaar, Peter J. Bex, Tobias Elze

Wills Eye Hospital Papers

Purpose: To detect visual field (VF) progression by analyzing spatial pattern changes.

Methods: We selected 12,217 eyes from 7360 patients with at least five reliable 24-2 VFs and 5 years of follow-up with an interval of at least 6 months. VFs were decomposed into 16 archetype patterns previously derived by artificial intelligence techniques. Linear regressions were applied to the 16 archetype weights of VF series over time. We defined progression as the decrease rate of the normal archetype or any increase rate of the 15 VF defect archetypes to be outside normal limits. The archetype method was compared with mean …

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 …

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 …

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 …

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 …

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.

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 …

Patients And Animal Models Of Cngβ1-Deficient Retinitis Pigmentosa Support Gene Augmentation Approach., Simon M Petersen-Jones, Laurence M. Occelli, Paige A. Winkler, Winston Lee, Janet R Sparrow, Mai Tsukikawa, Sanford L. Boye, Vince Chiodo, Jenina E. Capasso, Elvir Becirovic, Christian Schön, Mathias W. Seeliger, Alex V. Levin, Stylianos Michalakis, William W. Hauswirth, Stephen H. Tsang

Wills Eye Hospital Papers

Retinitis pigmentosa (RP) is a major cause of blindness that affects 1.5 million people worldwide. Mutations in cyclic nucleotide-gated channel β 1 (CNGB1) cause approximately 4% of autosomal recessive RP. Gene augmentation therapy shows promise for treating inherited retinal degenerations; however, relevant animal models and biomarkers of progression in patients with RP are needed to assess therapeutic outcomes. Here, we evaluated RP patients with CNGB1 mutations for potential biomarkers of progression and compared human phenotypes with those of mouse and dog models of the disease. Additionally, we used gene augmentation therapy in a CNGβ1-deficient dog model to evaluate potential translation …

Impact Of Natural Blind Spot Location On Perimetry., Mengyu Wang, Lucy Q. Shen, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Jonathan S. Myers, Peter J. Bex, Tobias Elze

Wills Eye Hospital Papers

We study the spatial distribution of natural blind spot location (NBSL) and its impact on perimetry. Pattern deviation (PD) values of 11,449 reliable visual fields (VFs) that are defined as clinically unaffected based on summary indices were extracted from 11,449 glaucoma patients. We modeled NBSL distribution using a two-dimensional non-linear regression approach and correlated NBSL with spherical equivalent (SE). Additionally, we compared PD values of groups with longer and shorter distances than median, and larger and smaller angles than median between NBSL and fixation. Mean and standard deviation of horizontal and vertical NBSL were 14.33° ± 1.37° and -2.06° ± …

Parafoveolar Retinoblastoma Regression With Foveal Preservation Following Intra-Arterial Chemotherapy Documented On Hand-Held Optical Coherence Tomography In A Newborn., Vera Yarovaya, Kareem Sioufi, Carol L Shields

Wills Eye Hospital Papers

Background: Optical coherence tomography (OCT) has become an invaluable tool in retinoblastoma management, providing submillimeter visualization of tumor control following treatment. Herein, we document OCT-detection of a subtle tumor recurrence, allowing early intervention and achieving foveal microanatomy preservation.

Case presentation: A 3-week-old girl was diagnosed with bilateral familial retinoblastoma, classified as group D in the right eye (OD) and group B in the left eye (OS), and treated with intravenous chemoreduction. At 6-months follow-up, the right eye was under control, but the left eye revealed a subtle juxtafoveal tumor recurrence, documented on handheld OCT (HH-OCT) and measuring 2750 µm in …

A Comparison Of Two Conjunctival Rotation Autograft Techniques In Primary Pterygium Surgery., Remzi Karadag, Neslihan Sevimli, Seydi Okumus, Isilay Ozsoy, Huseyin Bayramlar, Ela Durucu, Umit Aksoy, Christopher J. Rapuano

Wills Eye Hospital Papers

PURPOSE: To compare the effects of 90° and 180° conjunctival rotational autograft (CRA) techniques used in primary pterygium surgery.

METHODS: Forty-five patients were included in this retrospective study. Visual acuity (VA), corneal topography, and auto-refractometer measurements, as well as detailed biomicroscopic examinations, were performed preoperatively and postoperatively. During surgery, the pterygium tissue was excised then rotated 90° in Group 1 and180° in Group 2, after which it was sutured to the bare sclera. Pterygium recurrence was defined as corneal invasion ≥1 mm.

RESULTS: Group 1 consisted of 21 patients with a mean age of 45.1 ± 11.8 years, while Group …

Uveal Effusion Syndrome In 104 Eyes: Response To Corticosteroids - The 2017 Axel C. Hansen Lecture., Carol L. Shields, Kelsey Roelofs, Maura Di Nicola, Kareem Sioufi, Arman Mashayekhi, Jerry A. Shields

Wills Eye Hospital Papers

PURPOSE: The purpose of the study was to investigate the corticosteroids for uveal effusion syndrome (UES).

METHODS: Retrospective series of 104 eyes with UES treated with oral corticosteroids (OCS), periocular corticosteroids (PCS), topical corticosteroids (TCS), or observation (OBS). Main outcome measure was UES resolution.

RESULTS: Of 104 eyes, treatment included OCS (n = 27), PCS (n = 12), TCS (n = 11), and OBS (n = 54). A comparison of the four groups (OCS vs. PCS vs. TCS vs. OBS) revealed differences in those managed with OCS versus OBS as younger (66 vs. 72 years, P = 0.049), PCS versus …

Metastatic Deaths In Retinoblastoma Patients Treated With Intraarterial Chemotherapy (Ophthalmic Artery Chemosurgery) Worldwide., David H. Abramson, Carol L. Shields, Pascal Jabbour, Luiz Fernando Teixeira, José Roberto Falco Fonseca, Marcio Chaves Pedro Marques, Francis L. Munier, Francesco Puccinelli, Theodora Hadjistilianou, Sandra Bracco, Guillermo Chantada, Alejandro Ceciliano, Y. Pierre Gobin

Department of Neurosurgery Faculty Papers

BACKGROUND: Ophthalmic artery chemosurgery [OAC, intra-arterial chemotherapy (IAC)] was introduced in 2006 as treatment modality for intraocular retinoblastoma. The purpose of this commentary is to retrospectively review the incidence of metastatic deaths in retinoblastoma patients treated with OAC worldwide over a 10 year period. Retrospective data regarding metastatic deaths was collected from six international retinoblastoma centers (New York City USA, Philadelphia USA, Sao Paulo Brazil, Siena Italy, Lausanne Switzerland and Buenos Aires Argentina). All retinoblastoma patients from these centers (naive and recurrent, unilateral and bilateral) treated with OAC/IAC since 2006 have been included in this study. Data regarding number of …

Association Of Disease Location And Treatment With Survival In Diffuse Large B-Cell Lymphoma Of The Eye And Ocular Adnexal Region., Aseef H H. Ahmed, C. Stephen Foster, Carol L. Shields

Wills Eye Hospital Papers

Importance: Primary diffuse large B-cell lymphoma (DLBCL) of the ocular region is rare, and the utility of surgery and radiation therapy remains unresolved.

Objective: To explore the clinical characteristics and determine factors associated with overall survival in primary vitreoretinal lymphoma (PVRL) and ocular adnexal (OA)-uveal DLBCL.

Design, Setting, and Participants: This retrospective analysis included 396 patients with ophthalmic DLBCL from January 1, 1973, through December 31, 2014, using the Surveillance, Epidemiology, and End Results database. The median follow-up was 39.0 months (interquartile range, 5.1-72.9 months). All patients diagnosed with primary DLBCL of the eye or retina (PVRL) or the eyelid, …

Optical Coherence Tomography Angiography Features Of Iris Racemose Hemangioma In 4 Cases., Jason L. Chien, Kareem Sioufi, Sandor Ferenczy, Emil Anthony T. Say, Carol L. Shields

Wills Eye Hospital Papers

Importance: Optical coherence tomography angiography (OCTA) allows visualization of iris racemose hemangioma course and its relation to the normal iris microvasculature.

Objective: To describe OCTA features of iris racemose hemangioma.

Design, Setting, and Participants: Descriptive, noncomparative case series at a tertiary referral center (Ocular Oncology Service of Wills Eye Hospital). Patients diagnosed with unilateral iris racemose hemangioma were included in the study.

Main Outcomes and Measures: Features of iris racemose hemangioma on OCTA.

Results: Four eyes of 4 patients with unilateral iris racemose hemangioma were included in the study. Mean patient age was 50 years, all patients were white, and …

An Investigation Of Human Beta-Defensins And Cathelicidin Expression In Patients With Pterygium., Remzi Karadag, Nurettin Bayram, Serpil Oguztuzun, Huseyin Bayramlar, Busra Bozer, Gulcin Simsek, Christopher J Rapuano

Wills Eye Hospital Papers

PURPOSE: To investigate human beta-defensins (HBDs) and cathelicidin LL-37 (LL-37) expressions in patients with pterygium.

METHODS: In this retrospective consecutive case series, 26 pterygium specimens and 15 normal conjunctival specimens of 15 control subjects were in vestigated. Expressions of HBD-1, HBD-2, HBD-3, and LL-37 were assessed using immuno histochemical staining. A brown color in the cytoplasm and/or nuclei of epithelial cells indicated positive staining for HBDs and LL-37. For each antibody, the intensity of the reaction (negative [-], weak [1+], moderate [2+], or strong [3+]) was determined to describe the immunoreactions.

RESULTS: The median age was 52 years in both …

Incontinentia Pigmenti In A Child With Suspected Retinoblastoma., Stephanie J. Weiss, Archana Srinivasan, Michael A. Klufas, Carol L. Shields

Wills Eye Hospital Papers

BACKGROUND: Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can resemble retinoblastoma, especially when vitreoretinal fibrosis produces leukocoria.

CASE REPORT: A 2-month-old girl born full-term presented with leukocoria, suspicious for retinoblastoma. She was found to have an ischemic retrolental fibrovascular retinal detachment. In addition, there was linear cutaneous hyperpigmentation, diagnostic of incontinentia pigmenti.

CONCLUSIONS: Retinoblastoma can be a challenge …

Bilateral Retinal Problem In A Patient With Alport Syndrome., Sundeep K. Kasi, Murtaza K Adam, David S Ehmann

Wills Eye Hospital Papers

No abstract provided.

Integrated Results From The Copernicus And Galileo Studies., Amelie Pielen, W. Lloyd Clark, David S. Boyer, Yuichiro Ogura, Frank G. Holz, Jean-Francois Korobelnik, Brigitte Stemper, Friedrich Asmus, Kay D. Rittenhouse, Christiane Ahlers, Robert Vitti, Namrata Saroj, Oliver Zeitz, Julia A. Haller

Wills Eye Hospital Papers

OBJECTIVES: To report on the efficacy and safety of intravitreal aflibercept in patients with macular edema secondary to central retinal vein occlusion (CRVO) in an integrated analysis of COPERNICUS and GALILEO.

PATIENTS AND METHODS: Patients were randomized to receive intravitreal aflibercept 2 mg every 4 weeks or sham injections until week 24. From week 24 to week 52, all intravitreal aflibercept-treated patients in both studies and sham-treated patients in COPERNICUS were eligible to receive intravitreal aflibercept based on prespecified criteria. In GALILEO, sham-treated patients continued to receive sham treatment through week 52.

RESULTS: At week 24, mean gain in best-corrected …

Intravitreal Melphalan For Treatment Of Primary Vitreoretinal Lymphoma: A New Indication For An Old Drug., Carol L. Shields, Kareem Sioufi, Arman Mashayekhi, Jerry A. Shields

Wills Eye Hospital Papers

No abstract provided.

Non-Adherence To Eye Care In People With Diabetes, Ann P. Murchison, Lisa A. Hark, Laura T. Pizzi, Yang Dai, Eileen Mayro, Philip P. Storey, Benjamin E. Leiby, Julia A. Haller

Wills Eye Hospital Papers

Objective Evaluate individual factors that impact adherence to eye care follow-up in patients with diabetes. Design and methods A 4-year retrospective chart review was conducted for 1968 patients with diabetes over age 40 from an urban academic center. Data collected included demographics, insurance, visual acuity, smoking status, medications, dates of dilated fundus examinations (DFE), and reported hemoglobin A1C and blood glucose levels. The primary outcome was timely DFE follow-up adherence following the initial eye exam visit. Results Overall, 41.6% of patients adhered to initial follow-up eye care recommendations. Multivariable analysis demonstrated that patients with severe diabetic retinopathy (DR) were more …