Scholars@Duke
Catherine Bowes Rickman

Catherine Bowes Rickman

George and Geneva Boguslavsky Distinguished Professor of Eye Research
Ophthalmology, Vitreoretinal Diseases & Surgery
bowes007@duke.edu
Box 3802 Med Ctr, Durham, NC 27710
5010 Albert Eye Research Institute, Durham, NC 27710

Selected Publications

Dissecting the biological complexity of age-related macular degeneration: Is it one disease, multiple separate diseases, or a spectrum?

Journal Article Exp Eye Res · May 2025 Clinicians recognize the heterogeneity of age-related macular degeneration (AMD) in presentation, progression, and treatment response, as well as the challenges in distinguishing it from other macular degenerations. As part of the 2024 Ryan Initiative for ... Full text Link to item Cite

Truncated complement factor H Y402 gene therapy rescues C3 glomerulonephritis.

Journal Article Mol Ther · April 24, 2025 There are no effective therapies for patients with dry age-related macular degeneration (AMD) or C3 glomerulonephritis (C3G). Unfortunately, past efforts to treat C3G using exogenous human complement factor H (CFH) found limited success due to immune rejec ... Full text Link to item Cite

Small Extracellular Vesicle-Associated MiRNAs in Polarized Retinal Pigmented Epithelium.

Journal Article Invest Ophthalmol Vis Sci · November 4, 2024 PURPOSE: Oxidative stress in the retinal pigmented epithelium (RPE) has been implicated in age-related macular degeneration by impacting endocytic trafficking, including the formation, content, and secretion of extracellular vesicles (EVs). Using our model ... Full text Open Access Link to item Cite

The prion protein is required for normal responses to light stimuli by photoreceptors and bipolar cells.

Journal Article iScience · October 18, 2024 The prion protein, PrPC, is well known as an essential susceptibility factor for neurodegenerative prion diseases, yet its function in normal, healthy cells remains uncertain. A role in synaptic function has been proposed for PrPC, supported by its cell su ... Full text Link to item Cite

Truncated Complement Factor H Y402 Gene Therapy Cures C3 Glomerulonephritis.

Journal Article bioRxiv · September 21, 2024 Patients with both age-related macular degeneration (AMD) and C3 glomerulonephritis (C3G) are challenged by the absence of effective therapies to reverse and eliminate their disease burden. Capitalizing on complement dysregulation as both a significant ris ... Full text Link to item Cite

Aging and intraocular pressure homeostasis in mice.

Journal Article Aging Cell · July 2024 Age and elevated intraocular pressure (IOP) are the two primary risk factors for glaucoma, an optic neuropathy that is the leading cause of irreversible blindness. In most people, IOP is tightly regulated over a lifetime by the conventional outflow tissues ... Full text Link to item Cite

Microglia at sites of atrophy restrict the progression of retinal degeneration via galectin-3 and Trem2.

Journal Article J Exp Med · March 4, 2024 Outer retinal degenerations, including age-related macular degeneration (AMD), are characterized by photoreceptor and retinal pigment epithelium (RPE) atrophy. In these blinding diseases, macrophages accumulate at atrophic sites, but their ontogeny and nic ... Full text Link to item Cite

Anionic nanoplastic contaminants promote Parkinson's disease-associated α-synuclein aggregation.

Journal Article Sci Adv · November 15, 2023 Recent studies have identified increasing levels of nanoplastic pollution in the environment. Here, we find that anionic nanoplastic contaminants potently precipitate the formation and propagation of α-synuclein protein fibrils through a high-affinity inte ... Full text Link to item Cite

Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.

Journal Article Am J Pathol · November 2023 A pathologic feature of late-onset retinal degeneration caused by the S163R mutation in C1q-tumor necrosis factor-5 (C1QTNF5) is the presence of unusually thick deposits between the retinal pigmented epithelium (RPE) and the vascular choroid, considered a ... Full text Link to item Cite

Anionic Nanoplastic Contaminants Promote Parkinson's Disease-Associated α-Synuclein Aggregation.

Journal Article Res Sq · October 13, 2023 Recent studies have identified increasing levels of nanoplastic pollution in the environment. Here we find that anionic nanoplastic contaminants potently precipitate the formation and propagation of α-synuclein protein fibrils through a high-affinity inter ... Full text Link to item Cite

Polarized Desmosome and Hemidesmosome Shedding via Small Extracellular Vesicles is an Early Indicator of Outer Blood-Retina Barrier Dysfunction.

Journal Article J Extracell Biol · October 2023 The retinal pigmented epithelium (RPE) constitutes the outer blood-retinal barrier, enables photoreceptor function of the eye, and is constantly exposed to oxidative stress. As such, dysfunction of the RPE underlies pathology leading to development of age- ... Full text Link to item Cite

Microglia at Sites of Atrophy Restrict the Progression of Retinal Degeneration via Galectin-3 and Trem2 Interactions.

Journal Article bioRxiv · July 19, 2023 Degenerative diseases of the outer retina, including age-related macular degeneration (AMD), are characterized by atrophy of photoreceptors and retinal pigment epithelium (RPE). In these blinding diseases, macrophages are known to accumulate ectopically at ... Full text Link to item Cite

AAV Gene Augmentation of Truncated Complement Factor H Differentially Rescues Ocular Complement Dysregulation in a Mouse Model.

Journal Article Invest Ophthalmol Vis Sci · July 3, 2023 PURPOSE: Complement dysregulation in the eye has been implicated in the pathogenesis of age-related macular degeneration (AMD), and genetic variants of complement factor H (CFH) are strongly associated with AMD risk. We therefore aimed to untangle the role ... Full text Link to item Cite

Polarized Desmosome and Hemidesmosome Shedding via Exosomes is an Early Indicator of Outer Blood-Retina Barrier Dysfunction.

Journal Article bioRxiv · June 13, 2023 The retinal pigmented epithelium (RPE) constitutes the outer blood-retinal barrier, enables photoreceptor function of the eye, and is constantly exposed to oxidative stress. As such, dysfunction of the RPE underlies pathology leading to development of age- ... Full text Link to item Cite

Src family kinases engage differential pathways for encapsulation into extracellular vesicles.

Journal Article J Extracell Biol · June 2023 Extracellular vesicles (EVs) are heterogeneous biological nanoparticles secreted by all cell types. Identifying the proteins preferentially encapsulated in secreted EVs will help understand their heterogeneity. Src family kinases including Src and Fyn are ... Full text Link to item Cite

A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration.

Journal Article J Vis Exp · March 10, 2023 Age-related macular degeneration (AMD) is a debilitating retinal disorder in aging populations. It is widely believed that dysfunction of the retinal pigmented epithelium (RPE) is a key pathobiological event in AMD. To understand the mechanisms that lead t ... Full text Link to item Cite

Preface

Book · January 1, 2023 Cite

Exosomal miRNAs in primary polarized Retinal Pigmented Epithelium

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · 2023 Cite

Cell culture models to study retinal pigment epithelium-related pathogenesis in age-related macular degeneration.

Journal Article Exp Eye Res · September 2022 Age-related macular degeneration (AMD) is a disease that affects the macula - the central part of the retina. It is a leading cause of irreversible vision loss in the elderly. AMD onset is marked by the presence of lipid- and protein-rich extracellular dep ... Full text Link to item Cite

Encapsulating Cas9 into extracellular vesicles by protein myristoylation.

Journal Article J Extracell Vesicles · April 2022 CRISPR/Cas9 genome editing is a very promising avenue for the treatment of a variety of genetic diseases. However, it is still very challenging to encapsulate CRISPR/Cas9 machinery for delivery. Protein N-myristoylation is an irreversible co/post-translati ... Full text Link to item Cite

Targeting Lipid Metabolism for the Treatment of Age-Related Macular Degeneration: Insights from Preclinical Mouse Models.

Journal Article J Ocul Pharmacol Ther · 2022 Age-related macular degeneration (AMD) is a major leading cause of irreversible visual impairment in the world with limited therapeutic interventions. Histological, biochemical, genetic, and epidemiological studies strongly implicate dysregulated lipid met ... Full text Open Access Link to item Cite

Outflow segmentation patterns and pilocarpine induced outflow changes with age

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · 2022 Cite

High-density lipoproteins are a potential therapeutic target for age-related macular degeneration.

Journal Article J Biol Chem · September 25, 2020 Strong evidence suggests that dysregulated lipid metabolism involving dysfunction of the retinal pigmented epithelium (RPE) underlies the pathogenesis of age-related macular degeneration (AMD), the leading cause of irreversible blindness in the elderly. A ... Full text Link to item Cite

Four-Dimensional Microscope-Integrated Optical Coherence Tomography Guidance in a Model Eye Subretinal Surgery.

Conference Retina · October 2019 PURPOSE:: Subretinal delivery of stem cells and gene therapy vectors hold great promise in clinical care. Delivery techniques are evolving. We investigate the utility of 4-dimensional (volumes over time) microscope-integrated optical coherence tomography ( ... Full text Link to item Cite

A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration.

Journal Article Nat Commun · July 26, 2019 Age-related macular degeneration (AMD) is the most common cause of blindness among the elderly in the developed world. While treatment is effective for the neovascular or "wet" form of AMD, no therapy is successful for the non-neovascular or "dry" form. He ... Full text Link to item Cite

Systemic AAV delivery of complement regulator, Factor H Like-1 (FHL-1) impacts visual function

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · July 1, 2019 Link to item Cite

Microglial Function Is Distinct in Different Anatomical Locations during Retinal Homeostasis and Degeneration.

Journal Article Immunity · March 19, 2019 Microglia from different nervous system regions are molecularly and anatomically distinct, but whether they also have different functions is unknown. We combined lineage tracing, single-cell transcriptomics, and electrophysiology of the mouse retina and sh ... Full text Link to item Cite

Human complement factor H Y402H polymorphism causes an age-related macular degeneration phenotype and lipoprotein dysregulation in mice.

Journal Article Proc Natl Acad Sci U S A · February 26, 2019 One of the strongest susceptibility genes for age-related macular degeneration (AMD) is complement factor H (CFH); however, its impact on AMD pathobiology remains unresolved. Here, the effect of the principal AMD-risk-associated CFH variant (Y402H) on the ... Full text Link to item Cite

Isolation of Retinal Exosome Biomarkers from Blood by Targeted Immunocapture.

Journal Article Adv Exp Med Biol · 2019 The retinal pigmented epithelium (RPE) forms the outer blood-retinal barrier, provides nutrients, recycles visual pigment, and removes spent discs from the photoreceptors, among many other functions. Because of these critical roles in visual homeostasis, t ... Full text Link to item Cite

Correction to: Retinal Degenerative Diseases.

Journal Article Adv Exp Med Biol · 2019 The title of the chapter is "Melatonin as the Possible Link Between Age-Related Retinal Degeneration and the Disrupted Circadian Rhythm in Elderly" but degeneration was incorrectly published as regeneration. Now this has been corrected to degeneration. ... Full text Link to item Cite

Author Correction: Directional Exosome Proteomes Reflect Polarity-Specific Functions in Retinal Pigmented Epithelium Monolayers.

Journal Article Sci Rep · November 20, 2018 A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper. ... Full text Link to item Cite

Exosome uptake is selective but not species or tissue-specific

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · July 1, 2018 Link to item Cite

Dietary Cholesterol Contributes to Vision Loss in a Complement-Dysregulated AMD Mouse Model

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · July 1, 2018 Link to item Cite

Effect of Anti-C5a Therapy in a Murine Model of Early/Intermediate Dry Age-Related Macular Degeneration.

Journal Article Invest Ophthalmol Vis Sci · February 1, 2018 PURPOSE: A large body of evidence supports a central role for complement activation in the pathobiology of age-related macular degeneration (AMD), including plasma complement component 5a (C5a). Interestingly, C5a is a chemotactic agent for monocytes, a ce ... Full text Link to item Cite

Complement factor H in AMD: Bridging genetic associations and pathobiology.

Journal Article Prog Retin Eye Res · January 2018 Age-Related Macular Degeneration (AMD) is a complex multifactorial disease characterized in its early stages by lipoprotein accumulations in Bruch's Membrane (BrM), seen on fundoscopic exam as drusen, and in its late forms by neovascularization ("wet") or ... Full text Link to item Cite

Polarized Exosome Release from the Retinal Pigmented Epithelium.

Journal Article Adv Exp Med Biol · 2018 The retinal pigmented epithelium (RPE) forms the outer blood-retinal barrier and provides nutrients and recycling of visual pigment to the photoreceptors, among many other functions. The RPE is also a key site of pathophysiological changes in age-related m ... Full text Link to item Cite

Preface

Book · January 1, 2018 Cite

Retinal Degenerative Diseases Mechanisms and Experimental Therapy Preface

Conference RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY · January 1, 2018 Link to item Cite

Directional Exosome Proteomes Reflect Polarity-Specific Functions in Retinal Pigmented Epithelium Monolayers.

Journal Article Sci Rep · July 7, 2017 The retinal pigmented epithelium (RPE) forms the outer blood-retinal barrier in the eye and its polarity is responsible for directional secretion and uptake of proteins, lipoprotein particles and extracellular vesicles (EVs). Such a secretional division di ... Full text Open Access Link to item Cite

Roles of exosomes in the normal and diseased eye.

Journal Article Prog Retin Eye Res · July 2017 Exosomes are nanometer-sized vesicles that are released by cells in a controlled fashion and mediate a plethora of extra- and intercellular activities. Some key functions of exosomes include cell-cell communication, immune modulation, extracellular matrix ... Full text Link to item Cite

Lack of the P2X7 receptor protects against AMD-like defects and microparticle accumulation in a chronic oxidative stress-induced mouse model of AMD.

Journal Article Biochem Biophys Res Commun · January 1, 2017 The P2X7 receptor (P2X7R) is an ATP-gated ion channel that is a key player in oxidative stress under pathological conditions. The P2X7R is expressed in the retinal pigmented epithelium (RPE) and neural retina. Chronic oxidative stress contributes to the pa ... Full text Link to item Cite

Oxidative stress-mediated NFκB phosphorylation upregulates p62/SQSTM1 and promotes retinal pigmented epithelial cell survival through increased autophagy.

Journal Article PLoS One · 2017 p62 is a scaffolding adaptor implicated in the clearance of protein aggregates by autophagy. Reactive oxygen species (ROS) can either stimulate or inhibit NFκB-mediated gene expression influencing cellular fate. We studied the effect of hydrogen peroxide ( ... Full text Link to item Cite

Effect of Complement Factor H Variants in Regulating AMD-like Pathologies In Vivo.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

AMD and the alternative complement pathway: genetics and functional implications.

Journal Article Hum Genomics · June 21, 2016 Age-related macular degeneration (AMD) is an ocular neurodegenerative disorder and is the leading cause of legal blindness in Western societies, with a prevalence of up to 8 % over the age of 60, which continues to increase with age. AMD is characterized b ... Full text Link to item Cite

A Non-Canonical Role for β-Secretase in the Retina.

Chapter · 2016 It has long been established that β-Secretase (BACE) plays a critical role in the formation of amyloid plaques in Alzheimer's Disease patients, but it is only recently that the importance of β-secretases in retinal pathophysiology has been recognized. BACE ... Full text Link to item Cite

Regulation of age-related macular degeneration-like pathology by complement factor H.

Journal Article Proc Natl Acad Sci U S A · June 9, 2015 Featured Publication Complement factor H (CFH) is a major susceptibility gene for age-related macular degeneration (AMD); however, its impact on AMD pathobiology is unresolved. Here, the role of CFH in the development of AMD pathology in vivo was interrogated by analyzing aged ... Full text Link to item Cite

Complement dysregulation exacerbates AMD-like phenotype in APOE4 transgenic mouse model of AMD

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

Expression of human complement factor H prevents age-related macular degeneration-like retina damage and kidney abnormalities in aged Cfh knockout mice.

Journal Article Am J Pathol · January 2015 Featured Publication Complement factor H (CFH) is an important regulatory protein in the alternative pathway of the complement system, and CFH polymorphisms increase the genetic risk of age-related macular degeneration dramatically. These same human CFH variants have also been ... Full text Link to item Cite

Exogenous CFH Contributes to Complement Regulation in the Eyes of Cfh-Deficient Animals

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2014 Link to item Cite

The role of complement dysregulation in AMD mouse models.

Journal Article Adv Exp Med Biol · 2014 Variations in several complement genes are now known to be significant risk factors for the development of age-related macular degeneration (AMD). Despite dramatic effects on disease susceptibility, the underlying mechanisms by which common polymorphisms i ... Full text Link to item Cite

Dysregulated autophagy in the RPE is associated with increased susceptibility to oxidative stress and AMD.

Journal Article Autophagy · 2014 Autophagic dysregulation has been suggested in a broad range of neurodegenerative diseases including age-related macular degeneration (AMD). To test whether the autophagy pathway plays a critical role to protect retinal pigmented epithelial (RPE) cells aga ... Full text Link to item Cite

Dry age-related macular degeneration: mechanisms, therapeutic targets, and imaging.

Journal Article Invest Ophthalmol Vis Sci · December 13, 2013 Featured Publication Age-related macular degeneration is the leading cause of irreversible visual dysfunction in individuals over 65 in Western Society. Patients with AMD are classified as having early stage disease (early AMD), in which visual function is affected, or late AM ... Full text Link to item Cite

β-Secretase (BACE1) inhibition causes retinal pathology by vascular dysregulation and accumulation of age pigment.

Journal Article EMBO Mol Med · September 2012 β-Secretase (BACE1) is a major drug target for combating Alzheimer's disease (AD). Here we show that BACE1(-/-) mice develop significant retinal pathology including retinal thinning, apoptosis, reduced retinal vascular density and an increase in the age pi ... Full text Link to item Cite

Automatic segmentation of closed-contour features in ophthalmic images using graph theory and dynamic programming.

Journal Article Biomed Opt Express · May 1, 2012 This paper presents a generalized framework for segmenting closed-contour anatomical and pathological features using graph theory and dynamic programming (GTDP). More specifically, the GTDP method previously developed for quantifying retinal and corneal la ... Full text Link to item Cite

ApoER2 function in the establishment and maintenance of retinal synaptic connectivity.

Journal Article J Neurosci · October 5, 2011 The cellular and molecular mechanisms responsible for the development of inner retinal circuitry are poorly understood. Reelin and apolipoprotein E (apoE), ligands of apoE receptor 2 (ApoER2), are involved in retinal development and degeneration, respectiv ... Full text Link to item Cite

Anti-amyloid therapy protects against retinal pigmented epithelium damage and vision loss in a model of age-related macular degeneration.

Journal Article Proc Natl Acad Sci U S A · July 12, 2011 Featured Publication Age-related macular degeneration (AMD) is a leading cause of visual dysfunction worldwide. Amyloid β (Aβ) peptides, Aβ1-40 (Aβ40) and Aβ1-42 (Aβ42), have been implicated previously in the AMD disease process. Consistent with a pathogenic role for Aβ, we sh ... Full text Link to item Cite

Serial analysis of gene expression (SAGE) in normal human trabecular meshwork.

Journal Article Mol Vis · April 8, 2011 PURPOSE: To identify the genes expressed in normal human trabecular meshwork tissue, a tissue critical to the pathogenesis of glaucoma. METHODS: Total RNA was extracted from human trabecular meshwork (HTM) harvested from 3 different donors. Extracted RNA w ... Link to item Cite

Heparan sulfate, including that in Bruch's membrane, inhibits the complement alternative pathway: implications for age-related macular degeneration.

Journal Article J Immunol · November 1, 2010 Featured Publication An imbalance between activation and inhibition of the complement system has been implicated in the etiologies of numerous common diseases. Allotypic variants of a key complement fluid-phase regulatory protein, complement factor H (CFH), are strongly associ ... Full text Link to item Cite

The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited.

Journal Article Prog Retin Eye Res · March 2010 Featured Publication During the past ten years, dramatic advances have been made in unraveling the biological bases of age-related macular degeneration (AMD), the most common cause of irreversible blindness in western populations. In that timeframe, two distinct lines of evide ... Full text Link to item Cite

Developing SDOCT to assess donor human eyes prior to tissue sectioning for research.

Journal Article Graefes Arch Clin Exp Ophthalmol · August 2009 BACKGROUND: To compare spectral domain optical coherence tomography (SDOCT) cross-sectional images of human central retina obtained from donor eyes with and without age-related macular degeneration (AMD) to corresponding histopathology from light micrograp ... Full text Link to item Cite

Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Journal Article Invest Ophthalmol Vis Sci · April 2009 PURPOSE: X-linked high myopia with mild cone dysfunction and color vision defects has been mapped to chromosome Xq28 (MYP1 locus). CXorf2/TEX28 is a nested, intercalated gene within the red-green opsin cone pigment gene tandem array on Xq28. The authors in ... Full text Link to item Cite

Rapid and sensitive method for detection of Y402, H402, I62, and V62 variants of complement factor H in human plasma samples using mass spectrometry.

Journal Article Invest Ophthalmol Vis Sci · April 2009 Featured Publication PURPOSE: Variations in the complement factor H (CFH) gene are tightly associated with age-related macular degeneration (AMD) across diverse populations. Of the many nonsynonymous coding variants in CFH, two are most strongly associated with increased risk ... Full text Link to item Cite

Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.

Journal Article Annu Rev Genomics Hum Genet · 2009 Featured Publication Aging-associated neurodegenerative diseases significantly influence the quality of life of affected individuals. Genetic approaches, combined with genomic technology, have provided powerful insights into common late-onset diseases, such as age-related macu ... Full text Link to item Cite

NEIBank: genomics and bioinformatics resources for vision research.

Journal Article Mol Vis · July 18, 2008 NEIBank is an integrated resource for genomics and bioinformatics in vision research. It includes expressed sequence tag (EST) data and sequence-verified cDNA clones for multiple eye tissues of several species, web-based access to human eye-specific SAGE d ... Link to item Cite

Targeting age-related macular degeneration with Alzheimer's disease based immunotherapies: anti-amyloid-beta antibody attenuates pathologies in an age-related macular degeneration mouse model.

Journal Article Vision Res · February 2008 Featured Publication Age-related macular degeneration (AMD) is a late-onset, neurodegenerative retinal disease that shares several clinical and pathological features with Alzheimer's disease (AD) including extracellular deposits containing amyloid-beta (Abeta) peptides. Immuno ... Full text Link to item Cite

Oxidative stress-induced expression and modulation of Phosphatase of Regenerating Liver-1 (PRL-1) in mammalian retina.

Journal Article Biochim Biophys Acta · September 2007 Featured Publication The phosphatase of regenerating liver-1, PRL-1, gene was detected in a screen for foveal cone photoreceptor-associated genes. It encodes a small protein tyrosine phosphatase that was previously immunolocalized to the photoreceptors in primate retina. Here ... Full text Link to item Cite

Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?

Journal Article Invest Ophthalmol Vis Sci · September 2006 PURPOSE: The purpose of this study was to investigate retinal inosine monophosphate dehydrogenase 1 (IMPDH1) transcripts and proteins to gain an understanding of how mutations in IMPDH1 lead to retinal disease. Mutations in IMPDH1 cause the RP10 form of au ... Full text Link to item Cite

Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE.

Journal Article Invest Ophthalmol Vis Sci · June 2006 Featured Publication PURPOSE: To develop large-scale, high-throughput annotation of the human macula transcriptome and to identify and prioritize candidate genes for inherited retinal dystrophies, based on ocular-expression profiles using serial analysis of gene expression (SA ... Full text Link to item Cite

The fibroblast growth factor receptors, FGFR-1 and FGFR-2, mediate two independent signalling pathways in human retinal pigment epithelial cells.

Journal Article Biochem Biophys Res Commun · November 11, 2005 To examine the effects and potential implications for the expression of the two basic fibroblast growth factor (bFGF) receptors, FGFR-1 and FGFR-2, in retinal pigment epithelial (RPE) cells, bFGF-dependent changes in gene expression and RPE cell function w ... Full text Link to item Cite

Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration.

Journal Article Proc Natl Acad Sci U S A · August 16, 2005 Featured Publication Age-related macular degeneration (AMD) is a late-onset, multifactorial, neurodegenerative disease of the retina and the leading cause of irreversible vision loss in the elderly in the Western world. We describe here a murine model that combines three known ... Full text Link to item Cite

Recurrence of retinal pigment epithelial changes after macular translocation with 360 degrees peripheral retinectomy for geographic atrophy.

Journal Article Arch Ophthalmol · July 2005 OBJECTIVE: To assess the prevalence of recurrence of macular geographic atrophy (GA) of the retinal pigment epithelium (RPE) after macular translocation with 360 degrees retinectomy (MT360) in one institution. METHODS: A retrospective review of all cases o ... Full text Link to item Cite

Human RPE expression of cell survival factors.

Journal Article Invest Ophthalmol Vis Sci · May 2005 Featured Publication PURPOSE: To determine basal and tumor necrosis factor (TNF)-alpha-regulated expression of retinal pigment epithelial (RPE) cell survival factors and whether regulation is dependent on nuclear transcription factor (NF)-kappaB. METHODS: Cultured human RPE ce ... Full text Link to item Cite

Why do mutations in a widely expressed gene, IMPDH1, cause autosomal dominant retinitis pigmentosa?

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · January 1, 2005 Link to item Cite

Challenges of human RPE gene profiling

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · January 1, 2005 Link to item Cite

Human RPE cell survival factor gene expression in situ compared to expression in vitro

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · January 1, 2005 Link to item Cite

Light dependent membrane association of PRL-1, a phosphatase expressed in cone photoreceptors

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · January 1, 2005 Link to item Cite

Characterization of the cone photoreceptor-associated protein, FASH3B

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · January 1, 2005 Link to item Cite

Insulin-like growth factor-1 contributes to neovascularization in age-related macular degeneration.

Journal Article Biochem Biophys Res Commun · October 29, 2004 Choroidal neovascularization (CNV) is a debilitating complication of age-related macular degeneration and a leading cause of vision loss. Along with other angiogenic factors like vascular endothelial growth factor (VEGF), insulin-like growth factor (IGF)-1 ... Full text Link to item Cite

Identification of genes expressed in cone photoreceptor cells

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2004 Link to item Cite

Human cone-enriched macular retina expression profiles.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2004 Link to item Cite

Murine choroidal neovascularization: A model for exudative age-related macular degeneration (AMD)

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2004 Link to item Cite

Characterization of PRL-1, a human cone photoreceptor protein tyrosine phosphatase.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2004 Link to item Cite

Analysis of nitric oxide synthase genes in age-related macular degeneration

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2004 Link to item Cite

Expression of the blue-light receptor cryptochrome in the human retina.

Journal Article Invest Ophthalmol Vis Sci · October 2003 PURPOSE: To analyze the patterns of expression of the cryptochromes, CRY1 and CRY2, in the human retina and to correlate expression of these putative blue-light receptors with nonvisual photoreceptor localization. METHODS: CRY1 and CRY2 mRNA expression was ... Full text Link to item Cite

Effect of diet and targeted replacement human APOE isoforms in aged mice

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · May 1, 2003 Link to item Cite

Analysis of proteins encoded by two fovea-associated candidate genes for macular dystrophies.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · March 15, 2001 Link to item Cite

Expression of the protein tyrosine phosphatase, phosphatase of regenerating liver 1, in the outer segments of primate cone photoreceptors.

Journal Article Brain Res Mol Brain Res · April 14, 2000 Featured Publication Foveal cone photoreceptors are morphologically distinct and, presumably, express unique transcripts. We have identified a cDNA clone encoding the protein tyrosine phosphatase (PTP), phosphatase of regenerating liver 1 (PRL-1) in a screen for genes that are ... Full text Link to item Cite

Rod bipolar cells of the mammalian retina express the protein tyrosine phosphatase, PRL-1.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · March 15, 2000 Link to item Cite

Characterization of the cell death promoter, Bad, in the developing rat retina and forebrain.

Journal Article Brain Res Dev Brain Res · June 8, 1999 Neuronal programmed cell death, or apoptosis, occurs during development, following injury or in certain disease processes, and is regulated by members of the B-cell leukemia-2 (Bcl-2) protein family. These molecules include both positive and negative regul ... Full text Link to item Cite

Characterization of the cell death promoter, Bad, in the developing rat retina and forebrain

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · March 15, 1999 Link to item Cite

Suppression of trkB expression by antisense oligonucleotides alters a neuronal phenotype in the rod pathway of the developing rat retina.

Journal Article Proc Natl Acad Sci U S A · October 29, 1996 Featured Publication trkB is the high-affinity receptor for brain-derived neurotrophic factor (BDNF), a trophic molecule with demonstrated effects on the survival and differentiation of a wide variety of neuronal populations. In the mammalian retina, trkB is localized to both ... Full text Link to item Cite

Isolation and initial characterization of the 5' flanking region of the human and murine cyclic guanosine monophosphate-phosphodiesterase beta-subunit genes.

Journal Article Invest Ophthalmol Vis Sci · March 1996 PURPOSE: As an initial approach to study the mechanisms that direct photoreceptor-specific expression of the rod cyclic guanosine monophosphate-phosphodiesterase beta-subunit (beta-PDE) gene, the 5' flanking regions of the human and mouse genes were cloned ... Link to item Cite

IDENTIFICATION OF PRIMATE FOVEA-SPECIFIC MESSENGER-RNAS

Other INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · March 15, 1995 Link to item Cite

Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase.

Journal Article Proc Natl Acad Sci U S A · April 1, 1993 Featured Publication Retinal degeneration in the rd mouse is inherited as an autosomal recessive trait and is caused by a defect in the gene encoding the beta subunit of cGMP phosphodiesterase. Recently, a close genetic association of the rd gene with an endogenous xenotropic ... Full text Link to item Cite

Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16.

Journal Article Genomics · March 1992 The gene encoding the beta-subunit of rod photoreceptor cGMP phosphodiesterase (gene symbol PDEB, homolog of the mouse rd gene) is mapped to human chromosome 4 using somatic cell hybrids and further localized to the chromosome band 4p16 using in situ hybri ... Full text Link to item Cite

The potassium channel MBK1 (Kv1.1) is expressed in the mouse retina.

Journal Article Cell Mol Neurobiol · December 1991 1. The neurons of the retina have electrical properties that are different from those of most of the other neurons of the central nervous system. To identify the voltage-gated ion channels found in the retina, we screened mouse retinal cDNA libraries with ... Full text Link to item Cite

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase.

Journal Article Nature · October 18, 1990 Featured Publication Mice homozygous for the rd mutation display hereditary retinal degeneration and the classic rd lines serve as a model for human retinitis pigmentosa. In affected animals the retinal rod photoreceptor cells begin degenerating at about postnatal day 8, and b ... Full text Link to item Cite

Fine mapping of a putative rd cDNA and its co-segregation with rd expression.

Journal Article Invest Ophthalmol Vis Sci · August 1990 Retinal degeneration is inherited in an autosomal recessive pattern in the retinal degeneration (rd) mouse. The defective gene for this disease has been mapped to mouse chromosome 5 between the well-defined (anchor) genes Afp and Gus. We recently cloned a ... Link to item Cite

Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse.

Journal Article Proc Natl Acad Sci U S A · December 1989 Featured Publication The inherited retinal degeneration of the rd mouse results in the exclusive loss of one cell type, the photoreceptors. We took advantage of this visual-cell loss to devise a strategy for the isolation of photoreceptor-specific cDNAs based on the use of sub ... Full text Link to item Cite

Opsin, G-protein and 48-kDa protein in normal and rd mouse retinas: developmental expression of mRNAs and proteins and light/dark cycling of mRNAs.

Journal Article Exp Eye Res · September 1988 Retinal degeneration in rd mice is manifested during the most rapid period of postnatal photoreceptor differentiation and is hypothesized to be caused by a lesion in cGMP metabolism. We have studied the sequence of developmental expression of three protein ... Full text Link to item Cite

mRNAs coding for proteins of the cGMP cascade in the degenerative retina of the rd mouse.

Journal Article Exp Eye Res · October 1987 A lesion in cGMP metabolism has been hypothesized to cause retinal degeneration in rd mice. Available cloned cDNAs coding for proteins involved in the cGMP cascade have been used to compare the corresponding retinal RNAs in the degenerative (rd/rd) mouse a ... Full text Link to item Cite