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Neuromyelitis Optica, Children's Health School Services

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Educator guide about how to support students with neuromyelitis optica.

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 …

Ocular Blood Flow And Retinal Vascular Reactivity In Alzheimer’S Disease: A Systematic Review Of Retinal Images, Tori Sayers, Alexa Nichols, Amin Ibrahim, Igor Zwir, Andrew Tsin, Lorena Flores-Hernandez, Gladys E. Maestre, Jesus D. Melgarejo

Research Colloquium

Background: Alzheimer’s disease (AD) is the most common form of dementia and one of the leading causes of disability and death in the United States¹. Research efforts aim to identify pathological changes that may help support earlier detection of AD and lead to more accessible tools for monitoring disease progression². The retina is being explored as a potential non-invasive marker of AD, reflecting the shared embryology and microvasculature features between the retina and the brain. Although research has focused on structural changes in retinal vessel diameters and density, few studies have evaluated functional markers of retinal …

Amaurosis Fugax Progressing To Retinal Artery Occlusion With Anterior Migration Of A Retrobulbar Embolus On Orbital Color Doppler Imaging, Ari H. August, Turner D. Wibbelsman, Erik Massenzio, Sarah E. Thornton, Danijel J. Peričić

Wills Eye Hospital Papers

PURPOSE: Orbital color Doppler imaging (CDI) is useful in the evaluation of sudden monocular vision loss, providing information on etiology which may guide management. We present two cases of amaurosis fugax progressing to retinal artery occlusion (RAO) associated with migration of a hyperechoic particle within the central retinal artery (CRA) and altered vascular dynamics found on CDI.

OBSERVATIONS: Both patients presented with amaurosis fugax, and CDI revealed a hyperechoic particle 2.8 mm from the optic nerve head in both patients. Patient 1 was found to have severe aortic stenosis and a thoracic aortic aneurysm and was managed with dual antiplatelet …

Predictors Of Final Visual Outcome In Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy, Robert C Sergott, Valerio Carelli, Nancy Newman, Valérie Biousse, Patrick Yu-Wai-Man, Catherine Vignal-Clermont, Constant Josse, Magali Taiel, José-Alain Sahel, Piero Barboni

Wills Eye Hospital Papers

PURPOSE: This exploratory analysis aimed to identify predictive factors of final best-corrected visual acuity (BCVA) in patients with Leber hereditary optic neuropathy (LHON) harboring the m.11778G>A mutation who received lenadogene nolparvovec gene therapy.

METHODS: The following covariates were individually evaluated as possible factors associated with improved final BCVA: age, gender, timing of treatment, baseline BCVA value, and baseline optical coherence tomography (OCT) parameters. Univariate analyses were performed from three phase 3 studies (RESCUE, REVERSE, and REFLECT), using BCVA at 1.5 years post-treatment as the dependent variable.

RESULTS: In 113 eyes treated at least 6 months after disease onset, the …

Optimal Diagnostic Strategies For Concussion-Related Vision Disorders: A Review, Iniya K. Adhan, Kammi B. Gunton

Wills Eye Hospital Papers

Concussions are a mild form of traumatic brain injury (TBI) that is typically self-limited and transient with a high prevalence within our communities. Due to the vast visual network interconnectivity, visual symptoms secondary to a concussion occur about 90% of the time. A gold standard to confirm concussion acutely has not been well established. Visual function testing based on symptoms remains the standard of care in off-site evaluation for diagnosis of oculomotor dysfunction. This review covers the current diagnostic strategies for vision based disorders post-concussion for sideline testing, off-site testing, and research driven testing.

Diabetic Retinopathy: A Pathophysiological Discussion, Nathanael C. Nicholls

Senior Honors Theses

Diabetic retinopathy is a severe complication of diabetes that is capable of causing vision loss or blindness. As a result of hyperglycemia, the disease increases oxidative stress and activates biochemical processes such as the Hippo pathway and the complement system to cause significant damage to the retina. Overexpression of BTG1 and microRNA-183 enables activation of biochemical pathways that lead to negative effects on the retinal vascular endothelium including angiogenesis and inflammation. Conventional methods of diagnosis for diabetic retinopathy include fundus examination, nucleoside detection, and optical coherence tomography angiography. Photocoagulation and hormonal intravitreal injection are the most popular current treatments, while …

Future Applications Of Fluorescence Lifetime Imaging Ophthalmoscopy In Neuro-Ophthalmology, Neurology, And Neurodegenerative Conditions, Daniel M. Markowitz, Elizabeth Affel, György Hajnóczky, Robert C. Sergott

Farber Institute for Neuroscience Faculty Papers

Fluorescence lifetime imaging ophthalmoscopy (FLIO) has emerged as an innovative advancement in retinal imaging, with the potential to provide in vivo non-invasive insights into the mitochondrial metabolism of the retina. Traditional retinal imaging, such as optical coherence tomography (OCT) and fundus autofluorescence (FAF) intensity imaging, focus solely on structural changes to the retina. In contrast, FLIO provides data that may reflect retinal fluorophore activity, some of which may indicate mitochondrial metabolism. This review builds upon the existing literature to describe the principles of FLIO and established uses in retinal diseases while introducing the potential for FLIO in neurodegenerative conditions.

Artificial Intelligence-Based Methodologies For Early Diagnostic Precision And Personalized Therapeutic Strategies In Neuro-Ophthalmic And Neurodegenerative Pathologies, Rahul Kumar, Ethan Waisberg, Joshua Ong, Phani Paladugu, Dylan Amiri, Jeremy Saintyl, Jahnavi Yelamanchi, Robert Nahouraii, Ram Jagadeesan, Alireza Tavakkoli

SKMC Student Presentations and Publications

Advancements in neuroimaging, particularly diffusion magnetic resonance imaging (MRI) techniques and molecular imaging with positron emission tomography (PET), have significantly enhanced the early detection of biomarkers in neurodegenerative and neuro-ophthalmic disorders. These include Alzheimer's disease, Parkinson's disease, multiple sclerosis, neuromyelitis optica, and myelin oligodendrocyte glycoprotein antibody disease. This review highlights the transformative role of advanced diffusion MRI techniques-Neurite Orientation Dispersion and Density Imaging and Diffusion Kurtosis Imaging-in identifying subtle microstructural changes in the brain and visual pathways that precede clinical symptoms. When integrated with artificial intelligence (AI) algorithms, these techniques achieve unprecedented diagnostic precision, facilitating early detection of neurodegeneration and …

A Comparative Review Of Typical And Atypical Optic Neuritis: Advancements In Treatments, Diagnostics, And Prognosis, Noah J. Spillers, Patrick M. Luther, Norris C. Talbot, Evan J. Kidder, Connor A. Doyle, Salim C. Lutfallah, Alyssa G. Derouen, Sridhar Tirumala, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi

School of Medicine Faculty Publications

Optic neuritis (ON) is a debilitating condition that through various mechanisms, including inflammation or demyelination of the optic nerve, can result in partial or total permanent vision loss if left untreated. Accurate diagnosis and promptly initiated treatment are imperative related to the potential of permanent loss of vision if left untreated, which can lead to a significant reduction in the quality of life in affected patients. ON is subtyped as "typical" or "atypical" based on underlying causative etiology. The etiology of ON can be differentiated when appropriate diagnostic testing is performed. Using history taking, neuroimaging, and visual testing to localize …

Horner’S Syndrome, A Rare Complication Of Transcarotid Artery Revascularization, Mollie Ahn, April Miller, Shonda Banegas, Edic Stephanian, Morgan Collom

North Texas GME Research Forum 2024

Extracranial carotid artery aneurysm is a rare sequela of atherosclerosis, trauma, and conditions of chronic inflammation. Standard treatments include antiplatelet medications, open resection, or endovascular stenting. Transcarotid artery revascularization (TCAR) has become a well-recognized alternative treatment in the past few decades. This case study documents the first reported case of Horner’s syndrome post-TCAR for an internal carotid artery (ICA) aneurysm. A 68 year-old male with intermittent double vision was referred to vascular surgery clinic with brain CT angiography showing a 9mm saccular aneurysm with dissection flap of the right cervical ICA. Prior attempts by neuro-interventional radiology were unsuccessful due to …

Altered Outer Retinal Structure, Electrophysiology And Visual Perception In Parkinson's Disease, Katie K N Tran, Pei Ying Lee, David I Finkelstein, Allison M Mckendrick, Bao N Nguyen, Bang V Bui, Christine T O Nguyen

Faculty, Staff and Student Publications

BACKGROUND: Visual biomarkers of Parkinson's disease (PD) are attractive as the retina is an outpouching of the brain. Although inner retinal neurodegeneration in PD is well-established this has overlap with other neurodegenerative diseases and thus outer retinal (photoreceptor) measures warrant further investigation.

OBJECTIVE: To examine in a cross-sectional study whether clinically implementable measures targeting outer retinal function and structure can differentiate PD from healthy ageing and whether these are sensitive to intraday levodopa (L-DOPA) dosing.

METHODS: Centre-surround perceptual contrast suppression, macular visual field sensitivity, colour discrimination, light-adapted electroretinography and optical coherence tomography (OCT) were tested in PD participants (n = …

Sagging Eye Syndrome--An Overlooked Diagnosis, Zachary Tlumak Od, Theresa Zerilli-Zavgorodni Od, Nancy Shenouda-Awad Od

Optometric Clinical Practice

Abstract

Background: Sagging Eye Syndrome (SES) is a relatively unknown cause for binocular distance diplopia. SES presents with an acquired comitant or non-comitant small angle esotropia and/or hypotropia commonly occurring in the elderly population. Inferior displacement of the lateral rectus secondary to age-related degeneration of orbital connective tissue and extraocular muscles appears to be responsible for the ocular misalignment. SES patients often present with new onset or progressively worsening distance diplopia, typically warranting neuroimaging. However, through understanding SES, eye care practitioners may identify these cases, avoiding unnecessary imaging studies. Case Report: A 90-year-old male presented with complaints of intermittent horizontal …

Autosomal Dominant Optic Atrophy Plus Syndrome, Aaron W. Case Od, Lovelee E. Sayomac Od, Matthew J. Anderson Od

Optometric Clinical Practice

Background: Dominant optic atrophy (DOA) is the most commonly encountered hereditary optic neuropathy in clinical practice and is the result of a mutation in the OPA1 or OPA3 genes encoding mitochondrial membrane proteins. The resultant mitochondrial dysfunction causes a distinct set of ophthalmic findings and may progress to extra-ocular systems known as OPA plus syndrome. We present a case of late-onset OPA plus syndrome encompassing both typical ophthalmic findings and the rarer extra-ocular findings. Case Report: A 41 year-old Caucasian male presents for a second opinion regarding a previously diagnosed traumatic optic neuropathy. Examination revealed decreased best-corrected acuities, …

Insulin In Combination With N-Acetylcysteine Protects Hypoxia-Induced Toxicity In 661w Cells, Lili M. Guerra, Laura Valdez, Benxu Cheng, Andrew Tsin

Research Colloquium

Background: Proliferative diabetic retinopathy (PDR) is the leading cause of blindness among working-age adults. Photoreceptors are the most numerous and metabolically demanding cells in the retina thus oxygen is essential for retinal function. It has been reported that photoreceptors found in rat retina are specifically vulnerable to hypoxia. Hypoxia-induced metabolic stress leads to photoreceptor atrophy and retinopathy. Furthermore, photoreceptor cell death is known to occur mainly through apoptosis. However, the protection of hypoxia-induced-cytotoxicity in cone photoreceptor cells has not been investigated extensively. The aim of this study was to determine whether co-treatment of insulin and the N-Acetyl-L-Cysteine (NAC) (a free …

The Effectiveness And Outcomes Of Oculomotor And Visual Field Deficit Rehabilitation Secondary To Ischemic Cerebrovascular Accident: A Literature Review, Maanas Chiplunkar

Rowan-Virtua Research Day

Visual field loss and oculomotor dysfunctions are two common vision deficits caused by cerebrovascular accidents. Oftentimes these deficits can result in a loss of independence for patients and depression. Neurovisual rehabilitation is a frequently overlooked aspect of stroke rehabilitation, so investigating the current rehab approaches and the factors that play a role in the effectiveness of these methods is crucial so that clinicians can provide more direct and focused treatment for their patients. This literature review research process used PubMed, NCBI, and EbscoHost as primary databases. Preliminary results showed that restitutive and compensatory rehabilitation approaches are effective for treating visual …

Charles Bonnet Syndrome: A Case Report, Christian Scouarnec, Martin M. Forsberg

Rowan-Virtua Research Day

Charles Bonnet syndrome (CBS) involves nonthreatening hallucinations in patients who have no neurological and no psychological abnormalities but with significant visual impairment secondary to ocular disease, such as macular degeneration, cataracts and diabetic retinopathy. When a patient loses vision, their visual system doesn’t process new images. Without data coming through the eyes, the brain fills the void and makes up images or recalls stored images for you to see and this is what causes the hallucinations in CBS.

Many physicians are unaware of CBS and its prevalence, and with proper detection, physicians can help treat their patients with a frequently …

Ataxia Pancytopenia Syndrome Associated Ocular Albinism: A Clinical Vignette, Dru Curtis, Catherine Boon, Stephanie Ryan, Nausheen Khuddus

North Florida Division GME Research Day 2022

No abstract available.

Qki-Mediated Cholesterol Biosynthesis In Eye Lens And Myelin Of The Central Nervous System, Seula Shin, Seula Shin

Dissertations and Theses (Open Access)

Cells obtain cholesterol in two ways, de novo biosynthesis and uptake from circulation. While most tissues utilize both sources, eye lens and brain depend extensively on cholesterol biosynthesis due to the limited supply from circulation. Lens cell membrane consists of highest portion of cholesterol. Brain is the most cholesterol-rich organ, which accounts for 23% of total cholesterol. Genetic mutations of cholesterol biosynthesis enzymes in humans and animal models present cataracts and hypomyelinating disorders linked to neurological impairment. Yet, it remains unclear how gene expression of cholesterol biosynthesis is regulated in lens and brain. Therefore, studying cholesterol biosynthesis in both tissues …

Qki-Mediated Cholesterol Biosynthesis In Eye Lens And Myelin Of The Central Nervous System, Seula Shin, Seula Shin

Dissertations and Theses (Open Access)

Cells obtain cholesterol in two ways, de novo biosynthesis and uptake from circulation. While most tissues utilize both sources, eye lens and brain depend extensively on cholesterol biosynthesis due to the limited supply from circulation. Lens cell membrane consists of highest portion of cholesterol. Brain is the most cholesterol-rich organ, which accounts for 23% of total cholesterol. Genetic mutations of cholesterol biosynthesis enzymes in humans and animal models present cataracts and hypomyelinating disorders linked to neurological impairment. Yet, it remains unclear how gene expression of cholesterol biosynthesis is regulated in lens and brain. Therefore, studying cholesterol biosynthesis in both tissues …

Seeing Eye To Eye: A Machine Learning Approach To Automated Saccade Analysis, Maigh Attre

Honors Scholar Theses

Abnormal ocular motility is a common manifestation of many underlying pathologies particularly those that are neurological. Dynamics of saccades, when the eye rapidly changes its point of fixation, have been characterized for many neurological disorders including concussions, traumatic brain injuries (TBI), and Parkinson’s disease. However, widespread saccade analysis for diagnostic and research purposes requires the recognition of certain eye movement parameters. Key information such as velocity and duration must be determined from data based on a wide set of patients’ characteristics that may range in eye shapes and iris, hair and skin pigmentation [36]. Previous work on saccade analysis has …

Characterization Of Extracellular Vesicles From Human Diabetic Retinopathy Retinal Tissue In Vitro And From Urine Of Human Patients With Diabetic Retinopathy, Jason Mighty

Dissertations, Theses, and Capstone Projects

Diabetic Retinopathy (DR) is a neurovascular complication associated with diabetes mellitus that affects approximately 120 million people worldwide and its prevalence is expected to reach 190 million by 2030. DR diagnosis is accomplished with fundus ophthalmoscopy often when retinal damage and vision loss have already occurred. A group of biomarker being explored for early detection of diseases are extracellular vesicles (EVs), which are nanometer diameter lipid enclosed vesicles, released from all cell types and containing genetic cargo reflective of releasing cell state. EV biomarkers are currently being explored to help monitor disease predisposition, pathogenesis and response to treatment. While an …