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Full-Text Articles in Ophthalmology

Best Screening: Introducing The Neonatal Assessment Visual European Grid To Nicus In Tennessee, Gabrielle Sledge Apr 2024

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 …


Pituitary Adenoma Hidden By Comorbid Cataract, Len Koh Od, Megan E. Mcchesney Od, Chad E. Gosnell Od Oct 2023

Pituitary Adenoma Hidden By Comorbid Cataract, Len Koh Od, Megan E. Mcchesney Od, Chad E. Gosnell Od

Optometric Clinical Practice

Background: A pituitary adenoma is an abnormal growth in the pituitary gland. Pituitary adenomas are the most common cause of sellar masses accounting for approximately 10% of all intracranial neoplasms. Early visual symptom of pituitary adenoma can be hidden by comorbid cataract in elderly patients. Case Report: A 74 y.o. male presented to the eye clinic with blurry vision at all distances and has trouble with glare from lights. His best corrected visual acuity (BCVA) was 20/20-1 OD, 20/25-2 OS, but subjectively of poor quality. Slit lamp exam confirmed mild nuclear sclerotic cataract OU and normal fundus exam. …


Autosomal Dominant Optic Atrophy Plus Syndrome, Aaron W. Case Od, Lovelee E. Sayomac Od, Matthew J. Anderson Od Oct 2023

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, …


Stem Cell Technology For Age Related Macular Degeneration Intervention, Laura Valdez Sep 2023

Stem Cell Technology For Age Related Macular Degeneration Intervention, Laura Valdez

Research Symposium

Retinal pigmented epithelium (RPE) cells are located between the choroid and photoreceptors within the eye and are essential to provide nutrients from blood to rods and cones, as well retinoids of the visual cycle. Vision loss and various ocular diseases are attributable to the degeneration or dysfunction of the RPE cells, leading to blindness.One of the major ocular problem from RPE dysfunction is macular degeneration. Age-related macular degeneration (AMD) can be frequently diagnosed in patients over the age of 60. In the early stages of AMD, some symptoms may not be noticeable but will lead to vision loss in both …


A Reactivation Of Ocular Toxoplasmosis During Pregnancy, Brett Garee Od, Ms, Sarah Dieter Od, Pete Liette Od Oct 2022

A Reactivation Of Ocular Toxoplasmosis During Pregnancy, Brett Garee Od, Ms, Sarah Dieter Od, Pete Liette Od

Optometric Clinical Practice

Background: Toxoplasma gondii is a parasite estimated to affect over 500 million people worldwide. The feline is the definitive host for the parasite and infection may be acquired or congenital via maternal transmission. Humans may acquire the infection by ingestion of raw or undercooked meats and vegetables, contaminated water, or exposure to infected cat feces. The infection is often benign, self-limiting, and asymptomatic for humans, but potentially life threatening to infants or the immunocompromised patient.

Case Report: A 22 year-old Caucasian female, pregnant at 12 weeks gestation, presented to the optometry service with acute symptoms of hazy vision …


Role Of Optical Coherence Tomography Angiography To Differentiate Intraretinal Microvascular Abnormalities And Retinal Neovascularization In Diabetic Retinopathy, Abdul Sami Memon, Nasir A. Memon, Pir Salim Mahar Feb 2022

Role Of Optical Coherence Tomography Angiography To Differentiate Intraretinal Microvascular Abnormalities And Retinal Neovascularization In Diabetic Retinopathy, Abdul Sami Memon, Nasir A. Memon, Pir Salim Mahar

Department of Surgery

Objective: To assess proliferative diabetic retinopathy (PDR) and to describe the difference in angiographic representation of new vessels (NVs) and Intra retinal microvascular abnormalities (IRMA) on optical coherence tomography angiography (OCTA).
Methods: A cross-sectional observational study was performed at ISRA Postgraduate Institute of Ophthalmology, Karachi, from March 2018 to September 2018. Forty-two eyes of 21 patients with history of diabetes mellitus (DM) were examined. Twenty-eight eyes with a clinical diagnosis of severe non proliferative diabetic retinopathy (NPDR) or proliferative diabetic retinopathy (PDR) according to early treatment diabetic retinopathy study (ETDRS) were included and evaluated using Swept source optical coherence tomography …


Understanding Blue Light Retinal Damages And The Methods Of Prevention, Amelia Lee Dec 2021

Understanding Blue Light Retinal Damages And The Methods Of Prevention, Amelia Lee

Senior Honors Theses

Light emitting diode (LED) lights that comprise television screens, phone displays, laptops, and tablets have been studied by scientists in order to understand the implications of blue light radiation and the effects that it has on the human body—especially the retina of the eye. The retina is comprised of highly metabolic cells, and when those cells are placed under oxidative stress, death occurs causing ocular disease. Additionally, excess blue light exposure causes shifts in biological rhythms that govern patterns of alertness and sleep. Recently scientists began studying the methods of blue light prevention. Some studies show that blue light radiation …


Transitional Vocational Program For Persons With Low Vision And Other Visual Impairments, Andria Lubben, Karen Park, Susan Macdermott, Becki Cohill Aug 2021

Transitional Vocational Program For Persons With Low Vision And Other Visual Impairments, Andria Lubben, Karen Park, Susan Macdermott, Becki Cohill

Summer 2021 Virtual OTD Capstone Symposium

Background: Low Vision is a life-altering visual disability (CDC, 2015). OTs work with individuals with low vision and work in the workplace and education, however, there is no research on OTs working with individuals with low vision in work or post educational settings (Butler, 2016). Vocational and educational needs are often not being met for individuals with low vision (Barbieri et al., 2019).

Problem: OTs have a limited role in adolescent transition to the workplace and higher education in individuals with low vision and other visual impairments.

Purpose: To understand transitional programs that support vocational and educational development of individuals …


Evaluation Of The Spot™ Photoscreener’S Efficacy For Detecting Amblyopia Risk Factors Compared To Optometrists’ Examinations In 305 South Dakota Children, Jeremy J. Kudrna Md, Eric Habbe Md, Andrea Bordewyk Md, Hadly Carson Eisenbeisz Ms-Iv, Ryan Scarborough Od, Terrence Spencer Md Jul 2021

Evaluation Of The Spot™ Photoscreener’S Efficacy For Detecting Amblyopia Risk Factors Compared To Optometrists’ Examinations In 305 South Dakota Children, Jeremy J. Kudrna Md, Eric Habbe Md, Andrea Bordewyk Md, Hadly Carson Eisenbeisz Ms-Iv, Ryan Scarborough Od, Terrence Spencer Md

Aesculapius Journal (Health Sciences & Medicine)

Purpose: This study sought to further validate the efficacy of the SPOTTM photoscreener version (v) 3.0.0500 as a screening device for amblyopia risk factors (ARF).

Methods: This was a cross-sectional study from five different western South Dakota outpatient clinics. Data from 610 eyes of 305 children aged 6 months to 13.5 years collected between July 2018 to September 2018 were analyzed, using both the out-of-box referral criteria and the 2013 American Association for Pediatric Ophthalmology and Strabismus (AAPOS) referral criteria. Optometrist (eye care provider or ECP) cycloplegia practice patterns were deferred to each clinics’ specific protocols. Power vector and …


Preventing Ocular Surface Disease In The Pediatric Intensive Care Unit, Emily Mallette Jul 2021

Preventing Ocular Surface Disease In The Pediatric Intensive Care Unit, Emily Mallette

Dissertations

Preventing Ocular Surface Disease in the Pediatric Intensive Care Unit


Problem: Ocular surface disease in the Pediatric Intensive Care Unit is a significant problem in intubated patients due to altered eye protective mechanics, leading to exposure of the eye surface and dry eye. The purpose of this quality improvement project was to evaluate how an eye care protocol affected the frequency of artificial tear ointment administration.

Method: A descriptive, cohort design utilizing a retrospective chart review with convenience sampling of intubated children in the PICU from two cohorts was used. Comparisons were made between the preintervention cohort in 2020 and …


Interdisciplinary Practice For Occupational Therapy And Low Vision Rehabilitation, Priscilla Gim, Karen Park, Becki Cohill, Susan Macdermott Apr 2021

Interdisciplinary Practice For Occupational Therapy And Low Vision Rehabilitation, Priscilla Gim, Karen Park, Becki Cohill, Susan Macdermott

Spring 2021 Virtual OTD Capstone Symposium

The purpose of this capstone project was to advocate occupational therapy in low vision rehabilitation for improved access to low vision rehabilitation (LVR) for the adult population. However, due to COVID-19 pandemic, this capstone project shifted to a research study assessing limiting factors for occupational therapy collaboration with low vision services and exploring eye physician’s perception on low vision occupational therapy.

A mixed-methods survey was conducted to explore 54 eye physicians including Doctor of Medicine (MD) specialized in ophthalmology and Doctor of Optometry (OD)’s perception on the role of low vision occupational therapy, benefit of low vision occupational therapy, current …


Application Of Big-Data For Epidemiological Studies Of Refractive Error, Michael Moore, James Loughman, John Butler, Arne Ohlendorf, Siegfried Wahl, Daniel Ian Flitcroft Jan 2021

Application Of Big-Data For Epidemiological Studies Of Refractive Error, Michael Moore, James Loughman, John Butler, Arne Ohlendorf, Siegfried Wahl, Daniel Ian Flitcroft

Articles

Purpose

To examine whether data sourced from electronic medical records (EMR) and a large industrial spectacle lens manufacturing database can estimate refractive error distribution within large populations as an alternative to typical population surveys of refractive error.

Subjects

A total of 555,528 patient visits from 28 Irish primary care optometry practices between the years 1980 and 2019 and 141,547,436 spectacle lens sales records from an international European lens manufacturer between the years 1998 and 2016.

Methods

Anonymized EMR data included demographic, refractive and visual acuity values. Anonymized spectacle lens data included refractive data. Spectacle lens data was separated into lenses …


Application Of Big-Data For Epidemiological Studies Of Refractive Error, James Loughman Jan 2021

Application Of Big-Data For Epidemiological Studies Of Refractive Error, James Loughman

Articles

To examine whether data sourced from electronic medical records (EMR) and a large industrial spectacle lens manufacturing database can estimate refractive error distribution within large populations as an alternative to typical population surveys of refractive error.


Optic Disc Pits: A Case Report And Review, Jeffrey A. Sterling Od, Faao, Fsls Oct 2020

Optic Disc Pits: A Case Report And Review, Jeffrey A. Sterling Od, Faao, Fsls

Optometric Clinical Practice

Background: Congenital optic disc pits (ODP) are a rare clinical finding affecting approximately 1 in 11,000 people. Affected individuals are generally asymptomatic unless fluid accumulates in the macula resulting in severe vision loss. The management of ODPs depends mostly on clinical findings and can range from observation to surgery. Optometrists need to be aware of clinical presentations and possible complications of ODPs.

Case Report: This report will review a case of an asymptomatic optic disc pit and discuss the potential treatment options if complications arise.

Conclusion: Although rare, congenital optic disc pits need to be accurately assessed and diagnosed. Symptoms …


Pterygium Recurrence And Corneal Stabilization Point After Pterygium Excision Using The Controlled Partial Avulsion Fibrin Glue Technique, Mohd Radzi Hilmi, Khairidzan Mohd Kamal, Mohd Zulfaezal Che Azemin Aug 2020

Pterygium Recurrence And Corneal Stabilization Point After Pterygium Excision Using The Controlled Partial Avulsion Fibrin Glue Technique, Mohd Radzi Hilmi, Khairidzan Mohd Kamal, Mohd Zulfaezal Che Azemin

Makara Journal of Health Research

Background: This study aimed to evaluate the pterygium recurrence rate and corneal stabilization point after pterygium excision via the controlled partial avulsion fibrin glue technique using multiple corneal parameters.

Methods: One hundred eyes of 100 patients who had undergone primary pterygium excision surgery via the controlled partial avulsion fibrin glue technique were retrospectively reviewed. Corneal stabilization points were determined over four follow-up sessions (i.e., the 1st, 3rd, 6th, and 12th months after surgery) based on changes in Simulated-K, corneal irregularity measurement, shape factor, and toric mean keratometry. Post-operative courses were followed for 12 months after surgery. Recurrence was …


Access To Eye Care Before And After Vision Loss: A Qualitative Study Investigating Eye Care Among Persons Who Have Become Blind, Tosha Zaback, Stephanie Lam, Joan Randall, Teresa Field, Mitchell V. Brinks Jun 2020

Access To Eye Care Before And After Vision Loss: A Qualitative Study Investigating Eye Care Among Persons Who Have Become Blind, Tosha Zaback, Stephanie Lam, Joan Randall, Teresa Field, Mitchell V. Brinks

The Qualitative Report

Navigating access to eye care requires that patients recognize the need for screening and care, employ limited financial and social resources, manage complex health insurance policies, and access specialty clinical care. We investigated the experience of patients through the progression of vision loss to blindness, utilizing qualitative methods. We conducted structured telephone interviews with 28 persons with blindness throughout Oregon. Utilizing closed and open-ended questions, we explored patient experience on the events preceding avoidable blindness. Coding for emergent themes was conducted independently by two researchers using a constant comparative method. Participants described important barriers to accessing eye care: at the …


A Comparison Of Emoji Characters To Picture Optotypes, Simran Brar May 2020

A Comparison Of Emoji Characters To Picture Optotypes, Simran Brar

Research Days

No abstract provided.


The Efficacy Of Warm Compresses In The Treatment Of Meibomian Gland Dysfunction And Demodex Folliculorum Blepharitis, Orla Murphy, Veronica O'Dwyer, Aoife Lloyd-Mckernan Jan 2020

The Efficacy Of Warm Compresses In The Treatment Of Meibomian Gland Dysfunction And Demodex Folliculorum Blepharitis, Orla Murphy, Veronica O'Dwyer, Aoife Lloyd-Mckernan

Articles

Purpose: To investigate and compare the effect of warm compresses on meibomian gland dysfunction and Demodex folliculorum blepharitis.

Methods: Forty-two subjects (13 males, 29 females; mean age of 56.45 years) enrolled and completed the two-month warm compress treatment study. Three warm compress therapies were compared: Warm face cloth, MGDRx EyeBag® and OPTASETM Moist Heat Mask. Subjects attended for four visits: baseline, two weeks, four weeks, and eight weeks. Subjective symptoms, osmolarity, non-invasive tear break-up time, ocular surface staining, Schirmer I test, meibum expressibility and clarity, and eyelash manipulation and epilation to assess for the presence of Demodex folliculorum, …


Anterior Subcapsular Cataract Secondary To Black Mold Exposure, Katherine B. Lynch Od, Bruce A. Teitelbaum Od Oct 2019

Anterior Subcapsular Cataract Secondary To Black Mold Exposure, Katherine B. Lynch Od, Bruce A. Teitelbaum Od

Optometric Clinical Practice

A case report of a 31-year-old woman who developed anterior subacapsular cataracts, and associated dermatological signs, after exposure to black mold. While atopic illness is commonly seen in childhood, a growing body of literature supports adult onset atopic dermatitis. Anterior subcapsular cataracts are pathognomonic for atopic illness, and can support a definitive and expedited dermatologic diagnosis of adult onset disease.


Ocular Demodex Folliculorum: Prevalence And Associated Symptoms In An Irish Population, Orla Murphy, Veronica O'Dwyer, Aoife Lloyd-Mckernan Jan 2019

Ocular Demodex Folliculorum: Prevalence And Associated Symptoms In An Irish Population, Orla Murphy, Veronica O'Dwyer, Aoife Lloyd-Mckernan

Articles

Purpose To investigate the prevalence of ocular Demodex folliculorum (DF) in an Irish population. To validate a modified Ocular Surface Disease Index questionnaire and employ it to evaluate the relationship between dry eye symptoms and the presence of DF. Methods One hundred and fifty-six subjects were enrolled in an epidemiological cross-sectional prevalence study. Each subject completed a novel questionnaire on ocular symptoms and was assessed for the presence of DF. Data was analysed to assess prevalence and to search for significant links between each symptom and DF. Results An overall prevalence of 68% was found. Total mean number of DF …


Basic Vision Research With Clinical Applications And Science Education Assessments, Andrew Wilson Jun 2017

Basic Vision Research With Clinical Applications And Science Education Assessments, Andrew Wilson

Electronic Theses and Dissertations

Visual Acuity (VA) examinations are one of the most commonly conducted medical assessment throughout the world. Recent advances in computer technology allows for new forms of visual assessment to be conducted. In Part I of this thesis I demonstrate the capability of an automated computer program named VISION to assess human visual acuities. Different color combinations of an object against a background emitted from a computer screen are used to examine a variety of human color vision acuities. Results indicated a large difference in acuity scores between human subjects tested with these different color combinations. A single human subject exhibits …


Latanoprost And Timolol In Hydrogel Soft Drug-Dispensing Contact Lenses: A Comparative Analysis, Neha Potdar Apr 2017

Latanoprost And Timolol In Hydrogel Soft Drug-Dispensing Contact Lenses: A Comparative Analysis, Neha Potdar

Virginias Collegiate Honors Council Conference

Glaucoma patients only can instill glaucoma eye drops. This results in 1-7% absorption of the medication. Surveys show that patients forget to take their medication and have difficulty inserting their eye drops. Researchers at the Massachusetts Eye and Ear Infirmary have developed latanoprost drug-dispensing hydrogel soft contact lenses that dispense the drug to help facilitate the process. However, some glaucoma patients do not respond to latanoprost because they have uveitic glaucoma or do not want to experience latanoprost’s ocular side effects. Patients need an alternative which can be inserted into these contact lenses. Another commonly used glaucoma drug is timolol …


Optometric Case Finding For Glaucoma In Ireland: An Investigation Of Current Practice Patterns., Catriona Barrett Jan 2017

Optometric Case Finding For Glaucoma In Ireland: An Investigation Of Current Practice Patterns., Catriona Barrett

Doctoral

Optometrists play a vital role in the detection of glaucoma, a leading cause of irreversible blindness. As population screening for glaucoma is neither cost effective nor viable, glaucoma is primarily detected through opportunistic case-finding during routine eye examinations. The present study provides new insight into optometrists’ practice patterns for glaucoma detection in Ireland. Chapters 3 and 4 report on a national survey. The results show that optometrists are well equipped to carry out the traditional glaucoma case finding triad. However, moving towards enhanced services such as monitoring glaucoma suspects or ocular hypertension cases would require some investment in equipment and …


When The Challenges Of Aging And Visual Impairment Collide: Working Together To Build A Toolbox Of Rehab Ideas Of Best Care For Older Adults, Regula H. Robnett, Kathy Clarrage Nov 2016

When The Challenges Of Aging And Visual Impairment Collide: Working Together To Build A Toolbox Of Rehab Ideas Of Best Care For Older Adults, Regula H. Robnett, Kathy Clarrage

Occupational Therapy Faculty Presentations

Workshop/presentation by Regi Robnett, Ph.D., OTR/L, FAOTA, professor in the UNE Department of Occupational Therapy and Kathy Clarrage, COMS, Certified Orientation and Mobility Specialist for the State of Maine. Given at the North East Chapter of the Association for Education and Rehabilitation for the Blind and Visually Impaired (NEAER) conference, this presentation encouraged health care providers to work as a team to care for older, visually impaired adults. The professional audience included orientation and mobility specialists, vision rehabilitation therapists, low vision specialists, administrators in the field of blindness, social workers in the field of blindness and vocational rehabilitation counselors.


Development Of Holographic Sensors For Monitoring Relative Humidity And Temperature, Tatsiana Mikulchyk Oct 2016

Development Of Holographic Sensors For Monitoring Relative Humidity And Temperature, Tatsiana Mikulchyk

Doctoral

Photonic structures capable of responding to an analyte with an easily identifiable change in their optical properties have generated wide interest due to their possible application as holographic sensors. Holographic sensors are considered a low-cost, lightweight and disposable technology, and have potential for application in different areas ranging from medical diagnostics to environmental sensing including the monitoring of environmental temperature and relative humidity. In spite of the existing wide range of temperature and humidity sensors, holographic sensors are of special interest as they can provide fast, real-time, reversible or irreversible, visual colorimetric or electronic readouts. The main objective of this …


Exonic Sine Insertion In Stk38l Causes Canine Early Retinal Degeneration (Erd), Orly Goldstein, Anna V. Kukekova, Gustavo D. Aguirre, Gregory M. Acland Feb 2016

Exonic Sine Insertion In Stk38l Causes Canine Early Retinal Degeneration (Erd), Orly Goldstein, Anna V. Kukekova, Gustavo D. Aguirre, Gregory M. Acland

Gustavo D. Aguirre, VMD, PhD

Fine mapping followed by candidate gene analysis of erd — a canine hereditary retinal degeneration characterized by aberrant photoreceptor development — established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein, including binding sites for S100B and Mob proteins, part of the protein kinase domain, and a Thr-75 residue critical for autophosphorylation. Although known to have roles in neuronal cell function, the STK38L pathway has not previously been implicated in normal …


Targeting Gene Expression To Cones With Human Cone Opsin Promoters In Recombinant Aav, András M. Komáromy, John J. Alexander, Anne E. Cooper, Vince A. Chodo, Gregory M. Acland, William W. Hauswirth, Gustavo D. Aguirre Feb 2016

Targeting Gene Expression To Cones With Human Cone Opsin Promoters In Recombinant Aav, András M. Komáromy, John J. Alexander, Anne E. Cooper, Vince A. Chodo, Gregory M. Acland, William W. Hauswirth, Gustavo D. Aguirre

Gustavo D. Aguirre, VMD, PhD

Specific cone-directed therapy is of high priority in the treatment of human hereditary retinal diseases. However, not much information exists about the specific targeting of photoreceptor subclasses. Three versions of the human red cone opsin promoter (PR0.5, 3LCR-PR0.5 and PR2.1), and the human blue cone opsin promoter HB569, were evaluated for their specificity and robustness in targeting green fluorescent protein (GFP) gene expression to subclasses of cones in the canine retina when used in recombinant adeno-associated viral vectors of serotype 5. The vectors were administered by subretinal injection. The promoter PR2.1 led to most effective and specific expression of GFP …


Identical Mutation In A Novel Retinal Gene Causes Progressive Rod-Cone Degeneration In Dogs And Retinitis Pigmentosa In Humans, Barbara Zangerl, Orly Goldstein, Alisdair R. Philip, Sarah J. P Lindauer, Susan E. Pearce-Kelling, Roberts F. Mullins, Alexander S. Graphodatsky, Daniel Ripoll, Jeanette S. Felix, Edwin M. Stone, Gregory M. Acland, Gustavo D. Aguirre Feb 2016

Identical Mutation In A Novel Retinal Gene Causes Progressive Rod-Cone Degeneration In Dogs And Retinitis Pigmentosa In Humans, Barbara Zangerl, Orly Goldstein, Alisdair R. Philip, Sarah J. P Lindauer, Susan E. Pearce-Kelling, Roberts F. Mullins, Alexander S. Graphodatsky, Daniel Ripoll, Jeanette S. Felix, Edwin M. Stone, Gregory M. Acland, Gustavo D. Aguirre

Gustavo D. Aguirre, VMD, PhD

Progressive rod–cone degeneration (prcd) is a late-onset, autosomal recessive photoreceptor degeneration of dogs and a homolog for some forms of human retinitis pigmentosa (RP). Previously, the disease-relevant interval was reduced to a 106-kb region on CFA9, and a common phenotype-specific haplotype was identified in all affected dogs from several different breeds and breed varieties. Screening of a canine retinal EST library identified partial cDNAs for novel candidate genes in the disease-relevant interval. The complete cDNA of one of these, PRCD, was cloned in dog, human, and mouse. The gene codes for a 54-amino-acid (aa) protein in dog and human and …


Canine Rd3 Mutation Establishes Rod-Cone Dysplasia Type 2 (Rcd2) As Ortholog Of Human And Murine Rd3, Anna V. Kukekova, Orly Goldstein, Jennifer L. Johnson, Malcolm A. Richardson, Susan E. Pearce-Kelling, Anand Swaroop, James S. Friedman, Gustavo D. Aguirre, Gregory M. Acland Feb 2016

Canine Rd3 Mutation Establishes Rod-Cone Dysplasia Type 2 (Rcd2) As Ortholog Of Human And Murine Rd3, Anna V. Kukekova, Orly Goldstein, Jennifer L. Johnson, Malcolm A. Richardson, Susan E. Pearce-Kelling, Anand Swaroop, James S. Friedman, Gustavo D. Aguirre, Gregory M. Acland

Gustavo D. Aguirre, VMD, PhD

Rod-cone dysplasia type 2 (rcd2) is an autosomal recessive disorder that segregates in collie dogs. Linkage disequilibrium and meiotic linkage mapping were combined to take advantage of population structure within this breed and to fine map rcd2 to a 230-kb candidate region that included the gene C1orf36 responsible for human and murine rd3, and within which all affected dogs were homozygous for one haplotype. In one of three identified canine retinal RD3 splice variants, an insertion was found that cosegregates with rcd2 and is predicted to alter the last 61 codons of the normal open reading frame and further extend …


Clinical Light Exposure, Photoreceptor Degeneration, And Ap-1 Activation: A Cell Death Or Cell Survival Signal In The Rhodopsin Mutant Retina?, Danian Gu, William Beltran, Zexiao Li, Gregory M. Acland, Gustavo D. Aguirre Feb 2016

Clinical Light Exposure, Photoreceptor Degeneration, And Ap-1 Activation: A Cell Death Or Cell Survival Signal In The Rhodopsin Mutant Retina?, Danian Gu, William Beltran, Zexiao Li, Gregory M. Acland, Gustavo D. Aguirre

Gustavo D. Aguirre, VMD, PhD

PURPOSE. The T4R RHO mutant dog retina shows retinal degeneration with exposures to light comparable to those used in clinical eye examinations of patients. To define the molecular mechanisms of the degeneration, AP-1 DNA-binding activity, composition, posttranslational modification of the protein complex, and modulation of ERK/MAPK signaling pathways were examined in light-exposed mutant retinas. METHODS. Dark-adapted retinas were exposed to short-duration light flashes from a retinal camera used clinically for retinal photography and were collected at different time points after exposure. Electrophoretic mobility shift assay (EMSA), supershift EMSA, Western blot analysis, and immunocytochemistry were used to examine AP-1 signaling. RESULTS. …