keyword
MENU ▼
Read by QxMD icon Read
search

Retinitis pigmentosa

keyword
https://www.readbyqxmd.com/read/28078103/the-potential-of-spectral-domain-optical-coherence-tomography-imaging-based-retinal-biomarkers
#1
REVIEW
Prateep Phadikar, Sandeep Saxena, Surabhi Ruia, Timothy Y Y Lai, Carsten H Meyer, Dean Eliott
BACKGROUND: Biomarker", a merged word of "biological marker", refers to a broad subcategory of medical signs that objectively indicate the state of health, and well-being of an individual. Biomarkers hold great promise for personalized medicine as information gained from diagnostic or progression markers can be used to tailor treatment to the individual for highly effective intervention in the disease process. Optical coherence tomography (OCT) has proved useful in identifying various biomarkers in ocular and systemic diseases...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28077313/a-kind-of-rd1-mouse-in-c57bl-6j-mice-from-crossing-with-a-mutated-kunming-mouse
#2
Weiming Yan, Lu Yao, Wei Liu, Kai Sun, ZuoMing Zhang, Lei Zhang
We occasionally discovered a mouse with spontaneous retinitis pigmentosa (RP) from Kunming (KM) mouse breeding colony, with no obvious waveforms in ERG recordings. The aim of this study is to cross the spontaneously hereditary retinal degeneration mice (temporarily designated as KM/rd mice) derived from KM mice with C57BL/6J mice to establish a congenic inbred strain (temporarily designated as the B6/rd mice), and study the ocular phenotype and genotype of the mice. Fundus photography, tissue morphology, electroretinography (ERG), qRT-PCR, western blot and DNA sequence analysis were performed to observe the ocular phenotype and genotype of KM/rd and B6/rd mice...
January 8, 2017: Gene
https://www.readbyqxmd.com/read/28076437/mutations-in-splicing-factor-genes-are-a-major-cause-of-autosomal-dominant-retinitis-pigmentosa-in-belgian-families
#3
Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P Leroy, Elfride De Baere
PURPOSE: Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the molecular basis and to assess the contribution of the genes underlying their condition. METHODS: Mutation detection methods evolved over the past ten years, including mutation specific methods (APEX chip analysis), linkage analysis, gene panel analysis (Sanger sequencing, targeted next-generation sequencing or whole exome sequencing), high-resolution copy number screening (customized microarray-based comparative genomic hybridization)...
2017: PloS One
https://www.readbyqxmd.com/read/28065882/rescue-of-mutant-rhodopsin-traffic-by-metformin-induced-ampk-activation-accelerates-photoreceptor-degeneration
#4
Dimitra Athanasiou, Monica Aguila, Chikwado A Opefi, Kieron South, James Bellingham, Dalila Bevilacqua, Peter M Munro, Naheed Kanuga, Francesca E Mackenzie, Adam M Dubis, Anastasios Georgiadis, Anna B Graca, Rachael A Pearson, Robin R Ali, Sanae Sakami, Krzysztof Palczewski, Michael Y Sherman, Philip J Reeves, Michael E Cheetham
Protein misfolding caused by inherited mutations leads to loss of protein function and potentially toxic 'gain of function', such as the dominant P23H rhodopsin mutation that causes retinitis pigmentosa (RP). Here, we tested whether the AMPK activator metformin could affect the P23H rhodopsin synthesis and folding. In cell models, metformin treatment improved P23H rhodopsin folding and traffic. In animal models of P23H RP, metformin treatment successfully enhanced P23H traffic to the rod outer segment, but this led to reduced photoreceptor function and increased photoreceptor cell death...
January 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28061825/new-cdh3-mutation-in-the-first-spanish-case-of-hypotrichosis-with-juvenile-macular-dystrophy-a-case-report
#5
Fiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Marta Corton, Carmen Ayuso
BACKGROUND: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. CASE PRESENTATION: A Spanish male born in 1998 from non-consanguineous healthy parents with a suspected diagnosis of Keratosis Follicularis Spinulosa Decalvans and Retinitis Pigmentosa Inversa referred to our Genetics Department (IIS-Fundación Jiménez Díaz)...
January 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28060358/electronic-retinal-implant-surgery
#6
R E MacLaren
Blindness due to outer retinal degeneration still remains largely untreatable. Photoreceptor loss removes light sensitivity, but the remaining inner retinal layers, the optic nerve, and indeed the physical structure of the eye itself may be unaffected by the degenerative processes. This provides the opportunity to restore some degree of vision with an electronic device in the subretinal space. In this lecture I will provide an overview of our experiences with the first-generation retinal implant Alpha IMS, developed by Retina Implant AG and based on the technology developed by Eberhart Zrenner as part of a multicentre clinical trial (NCT01024803)...
January 6, 2017: Eye
https://www.readbyqxmd.com/read/28058154/intravitreal-dexamethasone-implant-ozurdex-for-refractory-macular-edema-secondary-to-retinitis-pigmentosa
#7
Nurgül Örnek, Kemal Örnek, İnci Elif Erbahçeci
Macular edema (ME) in retinitis pigmentosa (RP) often impairs central vision dramatically. A 41-year-old woman diagnosed with RP was referred to our outpatient clinic due to severe visual deterioration in both eyes. The patient was treated with topical carbonic anhydrase inhibitors, topical corticosteroids and intravitreal triamcinolone acetonide injections, but her ME recurred. Intravitreal 0.7 mg dexamethasone implant (Ozurdex, Allergan) was administered into both eyes without complications. On the fourth day after both injections, visual acuity improved and ME almost totally resolved...
August 2016: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28056120/clinical-characterization-of-cngb1-related-autosomal-recessive-retinitis-pigmentosa
#8
Sarah Hull, Marcella Attanasio, Gavin Arno, Keren Carss, Anthony G Robson, Dorothy A Thompson, Vincent Plagnol, Michel Michaelides, Graham E Holder, Robert H Henderson, F Lucy Raymond, Anthony T Moore, Andrew R Webster
Importance: There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows. Objective: To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1. Design, Setting, and Participants: In this case series, 10 patients from 9 families underwent full ophthalmologic examination...
January 5, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28053051/rom1-converts-y141c-prph2-associated-pattern-dystrophy-to-retinitis-pigmentosa
#9
Shannon M Conley, Michael W Stuck, Jamie N Watson, Muna I Naash
Mutations in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy (MD/PD). PRPH2-associated disease is often characterized by a phenotypic variability even within families carrying the same mutation, raising interest in potential modifiers. PRPH2 oligomerizes with its homologue rod outer segment (OS) membrane protein 1 (ROM1), and non-pathogenic PRPH2/ROM1 mutations, when present together, lead to digenic RP...
January 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28045043/high-prevalence-of-mutations-affecting-the-splicing-process-in-a-spanish-cohort-with-autosomal-dominant-retinitis-pigmentosa
#10
Maitane Ezquerra-Inchausti, Olatz Barandika, Ander Anasagasti, Cristina Irigoyen, Adolfo López de Munain, Javier Ruiz-Ederra
Retinitis pigmentosa is the most frequent group of inherited retinal dystrophies. It is highly heterogeneous, with more than 80 disease-causing genes 27 of which are known to cause autosomal dominant RP (adRP), having been identified. In this study a total of 29 index cases were ascertained based on a family tree compatible with adRP. A custom panel of 31 adRP genes was analysed by targeted next-generation sequencing using the Ion PGM platform in combination with Sanger sequencing. This allowed us to detect putative disease-causing mutations in 14 out of the 29 (48...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28045002/topographic-prominence-discriminator-for-the-detection-of-short-latency-spikes-of-retinal-ganglion-cells
#11
Myoung-Hwan Choi, Jungryul Ahn, Daejin Park, Sang Min Lee, Kwangsoo Kim, Dong-Il Cho, Solomon Senok, Kyo-In Koo, Yongsook Goo
<i>Objective</i>: Direct stimulation of retinal ganglion cells in degenerate retinas by implanting epi-retinal prostheses is a recognized strategy for restoration of visual perception in patients with retinitis pigmentosa or age-related macular degeneration. Elucidating the best stimulus-response paradigms in the laboratory using multielectrode arrays (MEA) is complicated by the fact that the short-latency spikes (within 10 ms) elicited by direct retinal ganglion cell (RGC) stimulation are obscured by the stimulus artifact which is generated by the electrical stimulator...
January 3, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28041994/a-dominant-mutation-in-rpe65-d477g-delays-dark-adaptation-and-disturbs-the-visual-cycle-in-the-mutant-knock-in-mice
#12
Younghwa Shin, Gennadiy Moiseyev, Dibyendu Chakraborty, Jian-Xing Ma
RPE65 is an indispensable component of the retinoid visual cycle in vertebrates, through which the visual chromophore 11-cis-retinal (11-cis-RAL) is generated to maintain normal vision. Various blinding conditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed to either homozygous or compound heterozygous mutations in RPE65. Herein, we investigated D477G missense mutation, an unprecedented dominant-acting mutation of RPE65 identified in patients with autosomal dominant RP...
December 30, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/28041644/mutations-in-pih1d3-cause-x-linked-primary-ciliary-dyskinesia-with-outer-and-inner-dynein-arm-defects
#13
Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G Haarman, Johannes M A Daniels, Erik A Sistermans, Natalija Bogunovic, Gerard W Dougherty, Inga M Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to absent IDAs, causing ciliary and flagellar immotility...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28035529/hereditary-retinal-dystrophy
#14
Thomas C Hohman
As our understanding of the genetic basis for inherited retinal disease has expanded, gene therapy has advanced into clinical development. When the gene mutations associated with inherited retinal dystrophies were identified, it became possible to create animal models in which individual gene were altered to match the human mutations. The retina of these animals were then characterized to assess whether the mutated genes produced retinal phenotypes characteristic of disease-affected patients. Following the identification of a subpopulation of patients with the affected gene and the development of techniques for the viral gene transduction of retinal cells, it has become possible to deliver a copy of the normal gene into the retinal sites of the mutated genes...
December 30, 2016: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28033301/structural-analysis-of-retinal-photoreceptor-ellipsoid-zone-and-postreceptor-retinal-layer-associated-with-visual-acuity-in-patients-with-retinitis-pigmentosa-by-ganglion-cell-analysis-combined-with-oct-imaging
#15
Guodong Liu, Hui Li, Xiaoqiang Liu, Ding Xu, Fang Wang
The aim of this study was to examine changes in photoreceptor ellipsoid zone (EZ) and postreceptor retinal layer in retinitis pigmentosa (RP) patients by ganglion cell analysis (GCA) combined with optical coherence tomography (OCT) imaging to evaluate the structure-function relationships between retinal layer changes and best corrected visual acuity (BCVA). Sixty-eight eyes of 35 patients with RP and 65 eyes of 35 normal controls were analyzed in the study. The average length of EZ was 911.1 ± 208.8 μm in RP patients, which was shortened with the progression of the disease on the OCT images...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28033161/relative-difficulties-of-daily-living-tasks-with-retinitis-pigmentosa
#16
Keziah Latham, Mohammad Baranian, Matthew A Timmis, Andy Fisher, Shahina Pardhan
PURPOSE: To determine the relative difficulty of activity of daily living tasks for people with retinitis pigmentosa (RP). METHODS: Participants with RP (n = 166) rated the difficulty of tasks (n = 43) underpinning the Dutch Activity Inventory goals of mobility indoors and outdoors, shopping, and using public transport. Demographic characteristics were also determined. Responses were Rasch analyzed to determine properties of the scale, derive unidimensional subscales, and consider differential item functioning (DIF)...
December 29, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/28013393/ngf-anti-vegf-combined-exposure-protects-rcs-retinal-cells-and-photoreceptors-that-underwent-a-local-worsening-of-inflammation
#17
Maria Luisa Rocco, Bijorn Omar Balzamino, Graziana Esposito, Carla Petrella, Luigi Aloe, Alessandra Micera
PURPOSE: Our previous study highlighted the potential nerve growth factor (NGF) effect on damaged photoreceptors from a rat model of spontaneous Retinitis Pigmentosa (RP). Herein, we tested the combined NGF/anti-vascular endothelial growth factor (αVEGF) effect on cultured retinal cells isolated from Royal College of Surgeons (RCS) rats receiving an intravitreal VEGF injection (iv-VEGF) to exacerbate retinal inflammation/neovascularization. METHODS: RCS (n = 75) rats were equally grouped as untreated (n = 25), iv-saline (single saline intravitreal injection; n = 25) and iv-VEGF (single VEGF intravitreal injection; n = 25)...
December 24, 2016: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28009400/optical-coherence-tomography-imaging-in-the-management-of-the-argus-ii-retinal-prosthesis-system
#18
Francesco Parmeggiani, Katia De Nadai, Angela Piovan, Andrea Binotto, Sara Zamengo, Marzio Chizzolini
PURPOSE: To report a real-life experience with the Argus II retinal prosthesis system in blind patients with end-stage retinitis pigmentosa (RP) or choroideremia (CHM), focusing on the pivotal role of optical coherence tomography (OCT) in both preoperative and postoperative management. METHODS: This hospital-based case series included 3 blind patients who were uneventfully implanted with Argus II epiretinal device. These patients (2 with RP and 1 with CHM) were selected during the Argus™ II Retinal Prosthesis System PostMarket Surveillance Study Protocol...
November 25, 2016: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28005673/multimodal-imaging-of-disease-associated-pigmentary-changes-in-retinitis-pigmentosa
#19
Kaspar Schuerch, Marcela Marsiglia, Winston Lee, Stephen H Tsang, Janet R Sparrow
PURPOSE: Using multiple imaging modalities, we evaluated the changes in photoreceptor cells and retinal pigment epithelium (RPE) that are associated with bone spicule-shaped melanin pigmentation in retinitis pigmentosa. METHODS: In a cohort of 60 patients with retinitis pigmentosa, short-wavelength autofluorescence, near-infrared autofluorescence (NIR-AF), NIR reflectance, spectral domain optical coherence tomography, and color fundus images were studied. RESULTS: Central AF rings were visible in both short-wavelength autofluorescence and NIR-AF images...
December 2016: Retina
https://www.readbyqxmd.com/read/28004814/olaparib-significantly-delays-photoreceptor-loss-in-a-model-for-hereditary-retinal-degeneration
#20
Ayse Sahaboglu, Melanie Barth, Enver Secer, Eva M Del Amo, Arto Urtti, Yvan Arsenijevic, Eberhart Zrenner, François Paquet-Durand
The enzyme poly-ADP-ribose-polymerase (PARP) mediates DNA-repair and rearrangements of the nuclear chromatin. Generally, PARP activity is thought to promote cell survival and in recent years a number of PARP inhibitors have been clinically developed for cancer treatment. Paradoxically, PARP activity is also connected to many diseases including the untreatable blinding disease Retinitis Pigmentosa (RP), where PARP activity appears to drive the pathogenesis of photoreceptor loss. We tested the efficacy of three different PARP inhibitors to prevent photoreceptor loss in the rd1 mouse model for RP...
December 22, 2016: Scientific Reports
keyword
keyword
5887
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"