-
Article
Open AccessSpatiotemporal control of genome engineering in cone photoreceptors
Cones are essential for color recognition, high resolution, and central vision; therefore cone death causes blindness. Understanding the pathophysiology of each cell type in the retina is key to develo** the...
-
Article
Vitamin A deficiency and the retinal “double carrot” sign with optical coherence tomography
Spectral-domain optical coherence tomography (SD-OCT) and full-field electroretinography (ERG) allow retinal assessment with vitamin A deficiency (VAD). Using SD-OCT, this study aimed to characterize and follo...
-
Article
Intrinsic differences in rod and cone membrane composition: implications for cone degeneration
In many retinal pathological conditions, rod and cone degeneration differs. For example, the early-onset maculopathy Stargardts disease type 1 (STGD1) is typified by loss of cones while rods are often less aff...
-
Article
Open AccessExpanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mut...
-
Article
Open AccessStage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography
Characterization of vascular impairment in Best vitelliform macular dystrophy (BVMD) is essential for the development of treatment modalities and therapy trials. As such, we seek to characterize the choriocapi...
-
Article
Open AccessShort-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction
Fundus autofluorescence is a valuable imaging tool in the diagnosis of inherited retinal dystrophies. With the advent of gene therapy and the numerous ongoing clinical trials for inherited retinal degeneration...
-
Article
Open AccessDisease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients
Retinitis pigmentosa (RP) is described as a bilateral disease with inter-eye symmetry that presents on short-wavelength fundus autofluorescence (SW-AF) imaging with hyperautofluorescent (hyperAF) rings with an...
-
Article
Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa
This study reports the ophthalmic and genetic findings of a Cameroonian patient with autosomal recessive retinitis pigmentosa (arRP) caused by a novel Receptor Expression Enhancing Protein 6 (REEP6) homozygous...
-
Article
Open AccessMulti-platform imaging in ABCA4-Associated Disease
Fundus autofluorescence (FAF) imaging is crucial to the diagnosis and monitoring of recessive Stargardt disease (STGD1). In a retrospective cohort study of 34 patients, we compared FAF imaging platforms varyin...
-
Article
Open AccessHyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration
There is a lack of studies which seek to discern disease expression in patients with mutations that alter retinal ceramide metabolism, specifically in the ceramide kinase like (CERKL) gene. This cross-sectional c...
-
Chapter and Conference Paper
Bisretinoids: More than Meets the Eye
Bisretinoid fluorophores are the major constituents of the lipofuscin of retinal pigment epithelium (RPE) that accumulates with age and contributes to retina disease. Knowledge of the burden placed on the RPE ...
-
Chapter and Conference Paper
Bisretinoid Photodegradation Is Likely Not a Good Thing
Retinaldehyde adducts (bisretinoids) accumulate in retinal pigment epithelial (RPE) cells as lipofuscin. Bisretinoids are implicated in some inherited and age-related forms of macular degeneration that lead to...
-
Article
Open AccessGene Therapy Restores Mfrp and Corrects Axial Eye Length
Hyperopia (farsightedness) is a common and significant cause of visual impairment, and extreme hyperopia (nanophthalmos) is a consequence of loss-of-function MFRP mutations. MFRP deficiency causes abnormal eye gr...
-
Article
Open AccessElectroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients
Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher ...
-
Article
Open AccessRetrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging
In this report, we assess the natural progression rate of retinitis pigmentosa (RP) over an average of three years using spectral-domain optical coherence tomography (SD-OCT) and short wavelength fundus autofl...
-
Chapter and Conference Paper
Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina
Since the lipofuscin of retinal pigment epithelial (RPE) cells has been implicated in the pathogenesis of Best vitelliform macular dystrophy, we quantified fundus autofluorescence (quantitative fundus autofluo...
-
Chapter and Conference Paper
Bisretinoid Degradation and the Ubiquitin-Proteasome System
Bisretinoid fluorophores of retinal pigment epithelial (RPE) lipofuscin have been shown to undergo degradation in two ways, the first involving photofragmentation following photooxidation of their polyene stru...
-
Chapter and Conference Paper
Impairment of the Ubiquitin-Proteasome Pathway in RPE Alters the Expression of Inflammation Related Genes
The ubiquitin-proteasome pathway (UPP) plays an important role in regulating gene expression. Retinal pigment epithelial cells (RPE) are a major source of ocular inflammatory cytokines. In this work we determi...
-
Chapter and Conference Paper
The Bisretinoids of RPE Lipofuscin: A Complex Mixture
Vitamin A aldehyde-derived compounds accumulate in retinal pigment epithelial (RPE) cells as bisretinoid lipofuscin pigments and have been linked to some retinal disorders, including recessive ABCA4-related disea...
-
Chapter
Bisretinoid Lipofuscin in the Retinal Pigment Epithelium: Oxidative Processes and Disease Implications
The bisretinoid pigments, including A2E, that constitute retinal pigment epithelial (RPE) lipofuscin form in photoreceptor outer segments from reactions of vitamin A aldehyde and are deposited in the RPE cells...
