Ophthalmology Commons^™

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

Division of Endocrinology, Diabetes and Metabolic Diseases Faculty Papers

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

Bilateral Severe Iatrogenic Pigmentary Glaucoma Following Laser Treatment For Cosmetic Iris Color Change, Jiaru Liu, Salim Korban, Marlene R. Moster, Marc-André Rhéaume, Qianqian Wang

Wills Eye Hospital Papers

PURPOSE: We report a case of bilateral severe pigmentary glaucoma and paracentral acute middle maculopathy (PAMM) following laser treatment for iris color change.

OBSERVATIONS: A 32-year-old female presented to our emergency clinic after having undergone 4 sessions of bilateral cosmetic iris laser treatment in Turkey to lighten the color of her dark brown irides. Visual acuity was 20/150 in the right eye (OD) and counting fingers in the left eye (OS) at presentation. Intraocular pressures (IOP) were 50 mmHg in the right eye and 42 mmHg in the left eye, with 4+ free-floating pigmented cells in the anterior chamber. The …

Sudden Vision Loss Heralding Covid-19-Associated Aspergillosis. Report Of 2 Cases, Tamara R. Vrabec, David R. Anderson, Priyal K. Shaw, Tatyana Milman

Wills Eye Hospital Papers

Purpose

To describe clinical, radiographic, laboratory and cytopathologic findings in 2 patients who developed vision loss due to endogenous aspergillus endophthalmitis during hospitalization for COVID-19 pneumonia.

Observations

Two unvaccinated sexagenarian male smokers lost vision within one month of contracting COVID-19 pneumonia. Initially, both received high dose steroids, nasal cannula oxygen and remdesivir. Immunomodulators tocilizumab or baricitinib were added during week 2 in case 1 and 2 respectively. Upon presentation after discharge from a post-COVID rehabilitation unit, visual acuities were light perception and hand motion. In both cases, inpatient blood and ocular fluid cultures were negative, serum 1,3-beta-D-glucan was positive, and …

Conditional Metastasis Of Uveal Melanoma In 8091 Patients Over Half-Century (51 Years) By Age Group: Assessing The Entire Population And The Extremes Of Age, Carol L. Shields, Annika Samuelson, Glenn Oh, Joseph D. Desimone, Zaynab Sajjadi, Zeynep Bas, Nicholas E Kalafatis, Sara E. Lally, Jerry A. Shields, Philip W. Dockery

Wills Eye Hospital Papers

PURPOSE: To evaluate cumulative incidence of metastasis at specific timepoints after treatment of uveal melanoma in a large cohort of patients and to provide comparison of conditional outcomes in the youngest and oldest cohorts (extremes of age).

METHODS: Retrospective analysis of 8091 consecutive patients with uveal melanoma at a single center over a 51-year period. The patients were categorized by age at presentation (0-29 years [n = 348, 4%], 30-59 years [n = 3859, 48%], 60-79 years [n = 3425, 42%], 80 to 99 years [n = 459, 6%]) and evaluated for nonconditional (from presentation date) and conditional (from specific …

Incidence Of Total Blindness After Central Retinal Artery Occlusion With Ocular Neovascularization, Harshvardhan Chawla, Hayley J. Redrick, Joshua T. Pannell, D. Anthony Mazzulla, Joseph D. Benevento, Sidharth Puri

School of Medicine Faculty Publications

Annual Meeting Association for Research in Vision and Ophthalmology, ARVO 2023, April 24 - 27, 2023, New Orleans, LA

A Modified Bicanalicular Crawford Placement Method For Congenital Nasolacrimal Duct Obstruction: Reducing Need For Operative Room Removal, Ellen E. Ingram, John P. Thompson, Elizabeth M. Bozner, Armin Avdic, Charles Reeder, George S. Ellis, Austin M. Pharo

School of Medicine Faculty Publications

Annual Meeting Association for Research in Vision and Ophthalmology, ARVO 2023, April 24 - 27, 2023, New Orleans, LA

Effect Of Phacoemulsification On Intraocular Pressure In Eyes With Functioning Tube Shunts, Wesam Shamseldin Shalaby, Sonali Patel, Sophia Lam, Allen Ganjei, Aakriti Garg Shukla, Natasha Kolomeyer, Daniel Lee, L. Jay Katz, Marlene Moster, Jonathan Myers, Reza Razeghinejad

Wills Eye Hospital Papers

Purpose: To evaluate the effect of phacoemulsification on intraocular pressure (IOP) in eyes with functioning tube shunts.

Methods: This was a retrospective chart review of primary open-angle glaucoma (POAG) patients with a functioning tube who underwent phacoemulsification and had ≥24 months of follow-up. The primary end point was defined as surgical failure (IOP > 21 mmHg) at month 24, progression to no light perception (NLP) vision, glaucoma reoperation, or implant removal. Surgical failure defined as IOP >18 and >15 mmHg, changes in visual acuity (VA), IOP, and number of medications were assessed.

Results: Twenty-seven eyes of 27 patients with moderate or …

Scar Formation In The Presence Of Mitomycin C And The Anti-Fibrotic Antibody In A Rabbit Model Of Glaucoma Microsurgery: A Pilot Study, Aakriti Garg Shukla, Tatyana Milman, Jolanta Fertala, Andrzej Steplewski, Andrzej Fertala

Wills Eye Hospital Papers

Purpose: This study aimed to evaluate the utility of a rationally engineered antibody that directly blocks collagen fibrillogenesis to reduce scar tissue formation associated with subconjunctival glaucoma surgery.

Material and methods: Fourteen eyes of 7 adult rabbits underwent glaucoma filtering surgery using XEN 45 Gel Stent. The rabbits’ eyes were divided randomly into three treatment groups: (i) treated with the antibody, (ii) treated with mitomycin C, and (iii) treated with the antibody and mitomycin C. Following surgeries, the intraocular pressure and bleb appearance were evaluated in vivo. The rabbits were sacrificed 8 weeks after the surgery, and their eyes were …

Topical Anesthetic Gel Interferes With Antibacterial Efficacy Of Povidone-Iodine Both In Vitro And In Vivo, Cecilly Kelleher Bs, Jacob Im Md, Linda Kang Bs, Aleksey Mishulin Md, Sukhvinder Singh Phd, Ashok Kumar Phd

Medical Student Research Symposium

Purpose: To evaluate the effects of viscous lidocaine gel on the antimicrobial efficacy of povidone-iodine (PI) and their order of application in both in vitro and in vivo models.

Methods: In vitro antibacterial effects were tested against Staphylococcus aureus (S. aureus) with disc diffusion methods for application of lidocaine alone, PI alone, PI before lidocaine, and lidocaine before PI. Zones of inhibition were measured after incubation at 37°C overnight. Mouse eyes were colonized with S. aureus for in vivo study to which PI and/or lidocaine were applied in various combinations. Eyes were then rinsed with saline, and …

The Association Of Intravitreal Injections Of Different Anti-Vascular Endothelial Growth Factor With Systemic Outcomes In Diabetic Patients, Eugene Yu-Chuan Kang, Tzu-Yi Lin, Sunir J. Garg, Nan-Kai Wang, Lee-Jen Chen, Pei-Wei Huang, Ming-Jen Chan, Kuan-Jen Chen, Wei-Chi Wu, Chi-Chun Lai, Yih-Shiou Hwang

Wills Eye Hospital Papers

This retrospective cohort study aimed to assess the systemic effects of three commonly available anti-vascular endothelial growth factor intravitreal injections in patients with diabetes, using data taken from a multi-institutional database in Taiwan. Patient data were sourced from the multi-institutional Chang Gung Research Database. Participants were divided into groups based on treatment with bevacizumab, ranibizumab, or aflibercept. Baseline characteristics were matched among the groups by the inverse probability of treatment weighting. The incidence rate of outcome events was calculated as the number of events divided by 100 person-years of follow-up. The cumulative incidence function was used to estimate the incidence …

Conjunctival And Lingual Mucosal Neuromas Without Multiple Endocrine Neoplasia Type 2b, Talia N. Shoshany, Christopher J. Rapuano, Tatyana Milman

Wills Eye Hospital Papers

Purpose: To report a patient with conjunctival and buccal neuromas and enlarged corneal nerves without Multiple Endocrine Neoplasia 2B (MEN2B).

Observations: A 28-year-old female presented with progressively enlarging bilateral limbal conjunctival growths. Slit lamp examination was notable for enlarged corneal nerves and well-circumscribed gelatinous subepithelial limbal nodules. Systemic examination revealed similar lesions on the tongue. Conjunctival biopsy demonstrated a mucosal neuroma. The patient underwent endocrine workup for MEN2B and genetic testing for the RET-proto oncogene mutations, all of which were negative.

Conclusions and Importance: The findings in our patient may be compatible with pure mucosal neuroma syndrome. The pattern of …

A Multicenter Analysis Of Nucleic Acid Quantification Using Aqueous Humor Liquid Biopsy In Retinoblastoma: Implications For Clinical Testing, Deborah H Im, Sarah Pike, Mark W Reid, Chen-Ching Peng, Shreya Sirivolu, Hans E Grossniklaus, G Baker Hubbard, Alison H Skalet, Kellyn N Bellsmith, Carol L. Shields, Sara E Lally, Andrew W Stacey, Bibiana J Reiser, Aaron Nagiel, Rachana Shah, Liya Xu, Jesse L Berry

Wills Eye Hospital Papers

PURPOSE: Retinoblastoma (RB) is most often diagnosed with clinical features and not diagnosed with tumor biopsy. This study describes tumor-derived analyte concentrations from aqueous humor (AH) liquid biopsy and its use in clinical assays.

DESIGN: Case series study.

PARTICIPANTS: Sixty-two RB eyes from 55 children and 14 control eyes from 12 children from 4 medical centers.

METHODS: This study included 128 RB AH samples including: diagnostic (DX) samples, samples from eyes undergoing treatment (TX), samples after completing treatment (END), and during bevacizumab injection for radiation therapy after completing RB treatment (BEV). Fourteen-control AH were analyzed for unprocessed analytes (double-stranded DNA …

Endogenous Mirna-Based Innate-Immunity Against Sars-Cov-2 Invasion Of The Brain, Walter J. Lukiw, Aileen I. Pogue

School of Medicine Faculty Publications

The severe acute respiratory syndrome Coronavirus-2 (SARS-CoV-2), the causative agent of COVID-19, possesses an unusually large positive-sense, single-stranded viral RNA (ssvRNA) genome of about ~29,903 nucleotides (nt). In many respects, this ssvRNA resembles a very large, polycistronic messenger RNA (mRNA) possessing a 5′-methyl cap (m7GpppN), a 3′- and 5′-untranslated region (3′-UTR, 5′-UTR), and a poly-adenylated (poly-A+) tail. As such, the SARS-CoV-2 ssvRNA is susceptible to targeting by small non-coding RNA (sncRNA) and/or microRNA (miRNA), as well as neutralization and/or inhibition of its infectivity via the human body’s natural complement of about ~2650 miRNA species. Depending on host cell and tissue …

A Qualitative Description Of Barriers To Visual Rehabilitation Experienced By Stroke Survivors With Visual Impairment In Alberta, Canada, Kiran Pohar Manhas, Katelyn Brehon, Jennis Jiang, Karim F. Damji, Fiona Costello

Department of Ophthalmology & Visual Sciences

Background: Post-stroke visual impairment (VI) is a common but under-recognized care challenge. Common manifestations of post-stroke VI include: diplopia, homonymous hemianopia, oscillopsia secondary to nystagmus, and visual inattention or neglect. In acute care settings, post-stroke VI recognition and treatment are often sub-optimal as emphasis is placed on survival. Stroke survivors with VI often face inconsistencies when accessing care out of hospital because variable availability and subsidization of visual rehabilitation. We sought to identify gaps in care experienced by stroke survivors with VI from stroke survivors' and care providers' perspectives.
Methods: We conducted a qualitative description study across 12 care sites …

Diabetic Retinopathy And The Role Of Vegf, Aishwarya Gatiganti, Laura Valdez, Andrew Tsin Ph.D.

School of Medicine Publications and Presentations

Diabetic retinopathy (DR) is the leading cause of blindness in the working-age population. It works by disrupting the neural and vascular components in the retina and leads to loss of neural interaction/function, vascular permeability, and angiogenesis. It can be classified into two general stages: non-proliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR). DR can also lead to vascular leakage and cause diabetic macular edema (DME), the most common cause of vision loss in DR (Duh, Sun et al. 2017). There are currently a wide range of therapies, but they are limited in their efficacy and side effects. None of …