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https://www.readbyqxmd.com/read/27933220/a-novel-method-for-quantitative-serial-autofluorescence-analysis-in-retinitis-pigmentosa-using-image-characteristics
#1
Jasleen K Jolly, Siegfried K Wagner, Jonathan Moules, Florian Gekeler, Andrew R Webster, Susan M Downes, Robert E MacLaren
PURPOSE: Identifying potential biomarkers for disease progression in retinitis pigmentosa (RP) is highly relevant now that gene therapy and other treatments are in clinical trial. Here we report a novel technique for analysis of short-wavelength autofluorescence (AF) imaging to quantify defined regions of AF in RP patients. METHODS: Fifty-five-degree AF images were acquired from 12 participants with RP over a 12-month period. Of these, five were identified as having a hyperfluorescent annulus...
December 2016: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/27930654/whole-organism-developmental-expression-profiling-identifies-rab-28-as-a-novel-ciliary-gtpase-associated-with-the-bbsome-and-intraflagellar-transport
#2
Victor L Jensen, Stephen Carter, Anna A W M Sanders, Chunmei Li, Julie Kennedy, Tiffany A Timbers, Jerry Cai, Noemie Scheidel, Breandán N Kennedy, Ryan D Morin, Michel R Leroux, Oliver E Blacque
Primary cilia are specialised sensory and developmental signalling devices extending from the surface of most eukaryotic cells. Defects in these organelles cause inherited human disorders (ciliopathies) such as retinitis pigmentosa and Bardet-Biedl syndrome (BBS), frequently affecting many physiological and developmental processes across multiple organs. Cilium formation, maintenance and function depend on intracellular transport systems such as intraflagellar transport (IFT), which is driven by kinesin-2 and IFT-dynein motors and regulated by the Bardet-Biedl syndrome (BBS) cargo-adaptor protein complex, or BBSome...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27928420/histopathological-changes-of-inner-retina-optic-disc-and-optic-nerve-in-rabbit-with-advanced-retinitis-pigmentosa
#3
Ken Asakawa, Hitoshi Ishikawa, Shigekazu Uga, Kimiyo Mashimo, Mineo Kondo, Hiroko Terasaki
We observed the histopathological changes of retinal ganglion cells (RGCs), optic disc, and optic nerve in rabbit with advanced retinitis pigmentosa (RP). Wild-type (WT) and rhodopsin transgenic (Tg) of RP rabbits were used at age 24 months. Light and electron microscopy were used to observe the retina, optic disc, and optic nerve. RGCs were also confirmed by immunofluorescent staining with a TUJ-1 monoclonal antibody. In addition to the rod and cone degeneration, we observed the astrocyte infiltration of the optic disc due to the damage of small RGCs and nerve fibres and atrophy of small optic nerve fibres...
December 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27919611/discovery-of-4-sulfamoyl-phenyl-%C3%AE-lactams-as-a-new-class-of-potent-carbonic-anhydrase-isoforms-i-ii-iv-and-vii-inhibitors-the-first-example-of-subnanomolar-ca-iv-inhibitors
#4
Srinivas Angapelly, P V Sri Ramya, Andrea Angeli, Simona Maria Monti, Martina Buonanno, Mallika Alvala, Cladiu T Supuran, Mohammed Arifuddin
A series of benzenesulfonamides incorporating 1,3,4-trisubstituted-β-lactam moieties was prepared from sulfanilamide Schiff bases and in situ obtained ketenes, by using the Staudinger cycloaddition reaction. The new compounds were assayed as inhibitors of four human isoforms of the metalloenzyme carbonic anhydrase (hCA, EC 4.2.1.1) involved in various physiological/pathological conditions, hCA I, II, IV and VII. Excellent inhibitory activity was observed against all these isoforms, as follows: hCA I, involved in some eye diseases was inhibited with KIs in the range of 7...
November 19, 2016: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/27919101/the-risk-of-pedestrian-collisions-with-peripheral-visual-field-loss
#5
Eli Peli, Henry Apfelbaum, Eliot L Berson, Robert B Goldstein
Patients with peripheral field loss complain of colliding with other pedestrians in open-space environments such as shopping malls. Field expansion devices (e.g., prisms) can create artificial peripheral islands of vision. We investigated the visual angle at which these islands can be most effective for avoiding pedestrian collisions, by modeling the collision risk density as a function of bearing angle of pedestrians relative to the patient. Pedestrians at all possible locations were assumed to be moving in all directions with equal probability within a reasonable range of walking speeds...
December 1, 2016: Journal of Vision
https://www.readbyqxmd.com/read/27917291/mutations-in-phosphodiesterase-6-identified-in-familial-cases-of-retinitis-pigmentosa
#6
Inayat Ullah, Firoz Kabir, Clare Brooks S Gottsch, Muhammad Asif Naeem, Aditya A Guru, Radha Ayyagari, Shaheen N Khan, Sheikh Riazuddin, Javed Akram, S Amer Riazuddin
To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and β subunits of phosphodiesterase 6 and identified mutations that were absent in control chromosomes. Our data suggest that mutations in PDE6A and PDE6B are responsible for the retinal phenotype in these families.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27913439/retinitis-pigmentosa-associated-cystoid-macular-oedema-pathogenesis-and-avenues-of-intervention
#7
REVIEW
S Strong, G Liew, M Michaelides
Hereditary retinal diseases are now the leading cause of blindness certification in the working age population (age 16-64 years) in England and Wales, of which retinitis pigmentosa (RP) is the most common disorder. RP may be complicated by cystoid macular oedema (CMO), causing a reduction of central vision. The underlying pathogenesis of RP-associated CMO (RP-CMO) remains uncertain, however, several mechanisms have been proposed, including: (1) breakdown of the blood-retinal barrier, (2) failure (or dysfunction) of the pumping mechanism in the retinal pigment epithelial, (3) Müller cell oedema and dysfunction, (4) antiretinal antibodies and (5) vitreous traction...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27911705/disease-mechanisms-of-x-linked-retinitis-pigmentosa-due-to-rp2-and-rpgr-mutations
#8
REVIEW
Rodanthi Lyraki, Roly Megaw, Toby Hurd
Photoreceptor degeneration is the prominent characteristic of retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies resulting in blindness. Although abnormalities in many pathways can cause photoreceptor degeneration, one of the most important causes is defective protein transport through the connecting cilium, the structure that connects the biosynthetic inner segment with the photosensitive outer segment of the photoreceptors. The majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or RP2 genes, the protein products of which are both components of the connecting cilium and associated with distinct mechanisms of protein delivery to the outer segment...
October 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27906070/subretinal-adipose-tissue-derived-mesenchymal-stem-cell-implantation-in-advanced-stage-retinitis-pigmentosa-a-phase-i-clinical-safety-study
#9
Ayse Oner, Z Burcin Gonen, Neslihan Sinim, Mustafa Cetin, Yusuf Ozkul
BACKGROUND: This prospective clinical case series aimed to investigate the safety of subretinal adipose tissue-derived mesenchymal stem cell (ADMSC) implantation in advanced stage retinitis pigmentosa (RP). METHODS: This study included 11 patients with end-stage RP who received subretinal implantation of ADMSCs. All patients had a total visual field defect and five of them only had light perception. The best corrected visual acuity (BCVA) in the study was 20/2000...
December 1, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/27905547/in-silico-mapping-of-protein-unfolding-mutations-for-inherited-disease
#10
Caitlyn L McCafferty, Yuri V Sergeev
The effect of disease-causing missense mutations on protein folding is difficult to evaluate. To understand this relationship, we developed the unfolding mutation screen (UMS) for in silico evaluation of the severity of genetic perturbations at the atomic level of protein structure. The program takes into account the protein-unfolding curve and generates propensities using calculated free energy changes for every possible missense mutation at once. These results are presented in a series of unfolding heat maps and a colored protein 3D structure to show the residues critical to the protein folding and are available for quick reference...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905344/concurrent-retinitis-pigmentosa-and-pigmented-paravenous-retinochoroidal-atrophy-phenotypes-in-the-same-patient
#11
Dhanashree Ratra, Dhileesh P Chandrasekharan, P Aruldas, Vineet Ratra
We report a unique case of a patient with retinitis pigmentosa (RP) phenotype in one eye and pigmented paravenous retinochoroidal atrophy (PPRCA) phenotype in the other eye. We describe in detail the symptoms, clinical findings, and investigations done for a 32-year-old Indian woman. This patient had phenotypical picture resembling typical RP in the right eye, with characteristic symptoms of night blindness and constricted field of vision and a nonrecordable electroretinogram (ERG). The left eye of the same patient revealed typical PPRCA phenotype, with no night blindness, normal field, and normal ERG...
October 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27898981/macular-features-in-retinitis-pigmentosa-correlations-among-ganglion-cell-complex-thickness-capillary-density-and-macular-function
#12
Lisa Toto, Enrico Borrelli, Rodolfo Mastropasqua, Alfonso Senatore, Luca Di Antonio, Marta Di Nicola, Paolo Carpineto, Leonardo Mastropasqua
Purpose: To investigate correlations among macular ganglion cell complex (GCC) layer thickness, macular capillary density, and macular function in patients affected by retinitis pigmentosa (RP). Methods: Fourteen patients (28 eyes) with previous diagnosis of RP were enrolled. The diagnosis of these conditions was made based on both clinical features and electrophysiological examination. All patients underwent a complete ophthalmologic examination, including optical coherence tomography angiography (OCTA) and multifocal electroretinogram (mfERG)...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27893855/inhibition-of-matrix-metalloproteinase-9-enhances-rod-survival-in-the-s334ter-line3-retinitis-pigmentosa-model
#13
Jung-A Shin, Hwa Sun Kim, Andrew Vargas, Wan-Qing Yu, Yun Sung Eom, Cheryl Mae Craft, Eun-Jin Lee
Retinitis Pigmentosa (RP) is one of the most common forms of inherited visual loss with the initial degeneration of rod photoreceptors, followed by a progressive cone photoreceptor deterioration. Coinciding with this visual loss, the extracellular matrix (ECM) is reorganized, which alters matrix metalloproteinase (MMP) activity levels. A potential pathological role of MMPs, MMP-9 in particular, involves an excitotoxicity-mediated physiological response. In the current study, we examine the MMP-9 and MMP-2 expression levels in the rhodopsin S334ter-line3 RP rat model and investigate the impact of treatment with SB-3CT, a specific MMP-9 and MMP-2 inhibitor, on rod cell survival was tested...
2016: PloS One
https://www.readbyqxmd.com/read/27893769/assessing-visual-fields-in-patients-with-retinitis-pigmentosa-using-a-novel-microperimeter-with-eye-tracking-the-mp-3
#14
Nozomi Igarashi, Masato Matsuura, Yohei Hashimoto, Kazunori Hirasawa, Hiroshi Murata, Tatsuya Inoue, Obata Ryo, Makoto Aihara, Ryo Asaoka
PURPOSE: The purpose of the current study is to investigate the test-retest reproducibility of visual fields (VFs) measured with the MP-3 microperimeter, in patients with retinitis pigmentosa (RP). METHOD: VFs were twice measured with the MP-3 and also the Humphrey Field Analyzer, using the 10-2 test grid pattern in both perimeters, in 30 eyes (15 right and 15 left eyes) of 18 RP patients (11 males and 7 females). Test-retest reproducibility was assessed using the mean absolute deviation (MAD) measure at all 68 points in the test grid...
2016: PloS One
https://www.readbyqxmd.com/read/27893103/potential-of-small-molecule-mediated-reprogramming-of-rod-photoreceptors-to-treat-retinitis-pigmentosa
#15
Paul A Nakamura, Shibing Tang, Andy A Shimchuk, Sheng Ding, Thomas A Reh
Purpose: Mutations in rod photoreceptor genes can cause retinitis pigmentosa (RP). Rod gene expression is regulated by the nuclear hormone receptor, Nr2e3. Genetic deletion of Nr2e3 reprograms rods into cells that resemble cone photoreceptors, and might therefore prevent their death from some forms of RP. There are no identified ligands for Nr2e3; however, reverse agonists might mimic the genetic rescue effect and may be therapeutically useful for the treatment of RP. Methods: We screened for small molecule modulators of Nr2e3 using primary retinal cell cultures and characterized the most potent, which we have named photoregulin1 (PR1), in vitro and in vivo...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27892714/-2r-3s-pinobanksin-3-cinnamate-ameliorates-photoreceptor-degeneration-in-pde6-rd10-mice
#16
Yin Li, Tuo Li, Yi-Qiao Xing, Jia-Zhang Li, Qing-Song Wu
As an inherited disorder caused by initial death of rod photoreceptors, retinitis pigmentosa is currently untreatable and usually leads to partial or complete blindness. (2R, 3S)-pinobanksin-3-cinnamate (PC) is a new flavonone isolated from the seed of Alpinia galanga Willd, and has been reported to exert neuroprotective effects by upregulating endogenous antioxidant enzymes. In this study, the anti-oxidative and neuroprotective activity of PC against photoreceptor apoptosis in rd10 mouse model of retinitis pigmentosa was explored...
November 28, 2016: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/27890673/functional-validation-of-abhd12-mutations-in-the-neurodegenerative-disease-pharc
#17
Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J Babin
ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. Cell and zebrafish models were designed to demonstrate the causal link between an identified new missense mutation p...
November 23, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27889058/mutations-in-reep6-cause-autosomal-recessive-retinitis-pigmentosa
#18
Gavin Arno, Smriti A Agrawal, Aiden Eblimit, James Bellingham, Mingchu Xu, Feng Wang, Christina Chakarova, David A Parfitt, Amelia Lane, Thomas Burgoyne, Sarah Hull, Keren J Carss, Alessia Fiorentino, Matthew J Hayes, Peter M Munro, Ralph Nicols, Nikolas Pontikos, Graham E Holder, Chinwe Asomugha, F Lucy Raymond, Anthony T Moore, Vincent Plagnol, Michel Michaelides, Alison J Hardcastle, Yumei Li, Catherine Cukras, Andrew R Webster, Michael E Cheetham, Rui Chen
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional pathways, including photoreceptor development, phototransduction, the retinoid cycle, cilia, and outer segment development. Here we report the identification of biallelic mutations in Receptor Expression Enhancer Protein 6 (REEP6) in seven individuals with autosomal-recessive RP from five unrelated families...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27886254/two-novel-mutations-in-prpf3-causing-autosomal-dominant-retinitis-pigmentosa
#19
Zilin Zhong, Min Yan, Wan Sun, Zehua Wu, Liyun Han, Zheng Zhou, Fang Zheng, Jianjun Chen
Retinitis pigmentosa (RP) is a heterogeneous set of hereditary eye diseases, characterized by selective death of photoreceptor cells in the retina, resulting in progressive visual impairment. Approximately 20-40% of RP cases are autosomal dominant RP (ADRP). In this study, a Chinese ADRP family previously localized to the region between D1S2819 and D1S2635 was sequenced via whole-exome sequencing and a variant c.1345C > G (p.R449G) was identified in PRPF3. The Sanger sequencing was performed in probands of additional 95 Chinese ADRP families to investigate the contribution of PRPF3 to ADRP in Chinese population and another variant c...
November 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27882258/dysmorphic-facial-features-and-other-clinical-characteristics-in-two-patients-with-pex1-gene-mutations
#20
Mehmet Gunduz, Ozlem Unal
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems...
2016: Case Reports in Pediatrics
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