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Choroideremia

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https://www.readbyqxmd.com/read/28062428/optical-coherence-tomography-angiography-and-fundus-autofluorescence-in-the-eyes-with-choroideremia
#1
Maki Kato, Ichiro Maruko, Hideki Koizumi, Tomohiro Iida
A 65-year-old man with presumed choroideremia with preserved central vision was examined by fundus autofluorescence (FAF) and optical coherence tomography angiography (OCTA). FAF showed an isolated area of hyperautofluorescence that involved the fovea. Although the choroid capillary slab of the OCTA showed the medium and large choroidal vessels inferior to the area of retinal pigment epithelium (RPE) atrophy, the choriocapillaris was visible in a relatively wider area than the hyperautofluorescent area in the FAF images...
January 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28055019/rep1-inhibits-foxo3-mediated-apoptosis-to-promote-cancer-cell-survival
#2
Kwon-Ho Song, Seon Rang Woo, Joon-Yong Chung, Hyo-Jung Lee, Se Jin Oh, Soon-Oh Hong, Jaegal Shim, Yong Nyun Kim, Seung Bae Rho, Seung-Mo Hong, Hanbyoul Cho, Masahiko Hibi, Dong-Jun Bae, Sang-Yeob Kim, Min Gyu Kim, Tae Woo Kim, Young-Ki Bae
Rab escort protein 1 (REP1) is a component of Rab geranyl-geranyl transferase 2 complex. Mutations in REP1 cause a disease called choroideremia (CHM), which is an X-linked eye disease. Although it is postulated that REP1 has functions in cell survival or death of various tissues in addition to the eye, how REP1 functions in normal and cancer cells remains to be elucidated. Here, we demonstrated that REP1 is required for the survival of intestinal cells in addition to eyes or a variety of cells in zebrafish, and also has important roles in tumorigenesis...
January 5, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28041643/comprehensive-rare-variant-analysis-via-whole-genome-sequencing-to-determine-the-molecular-pathology-of-inherited-retinal-disease
#3
Keren J Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Megy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka, Vincent Plagnol, Christopher Penkett, Kathleen Stirrups, Roberta Rizzo, Genevieve Wright, Dragana Josifova, Maria Bitner-Glindzicz, Richard H Scott, Emma Clement, Louise Allen, Ruth Armstrong, Angela F Brady, Jenny Carmichael, Manali Chitre, Robert H H Henderson, Jane Hurst, Robert E MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy A Thompson, Emma Wakeling, Willem H Ouwehand, Michel Michaelides, Anthony T Moore, Andrew R Webster, F Lucy Raymond
Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28035529/hereditary-retinal-dystrophy
#4
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/28009400/optical-coherence-tomography-imaging-in-the-management-of-the-argus-ii-retinal-prosthesis-system
#5
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/28002873/effects-of-pupil-dilation-on-maia-microperimetry
#6
Ruofan C Han, Jasleen K Jolly, Kanmin Xue, Robert E MacLaren
BACKGROUND: MAIA microperimetry assesses macular sensitivity to projected point light sources and maps eye movements to assess fixation stability. While microperimetry is gaining prominence as an assessment tool in clinical and research settings, there is no consensus on whether it should be performed before or after pupil dilation. No studies to date have examined the effect of pupil dilation on results. The aim of this project was to elucidate the effect of pupil dilation on microperimetry outcomes...
December 21, 2016: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/27986385/natural-history-of-the-central-structural-abnormalities-in-choroideremia-a-prospective-cross-sectional-study
#7
Tomas S Aleman, Grace Han, Leona W Serrano, Nicole M Fuerst, Emily S Charlson, Denise J Pearson, Daniel C Chung, Anastasia Traband, Wei Pan, Gui-Shuang Ying, Jean Bennett, Albert M Maguire, Jessica I W Morgan
PURPOSE: To describe in detail the central retinal structure of a large group of patients with choroideremia (CHM). DESIGN: A prospective, cross-sectional, descriptive study. PARTICIPANTS: Patients (n = 97, age 6-71 years) with CHM and subjects with normal vision (n = 44; ages 10-50 years) were included. METHODS: Subjects were examined with spectral-domain optical coherence tomography (SD OCT) and near-infrared reflectance imaging...
December 13, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27951593/autofluorescence-lifetimes-in-patients-with-choroideremia-identify-photoreceptors-in-areas-with-retinal-pigment-epithelium-atrophy
#8
Chantal Dysli, Sebastian Wolf, Hoai Viet Tran, Martin S Zinkernagel
Purpose: The purpose of this study was to investigate fundus autofluorescence lifetimes in patients with choroideremia and to identify tissue-specific lifetime characteristics and potential prognostic markers. Methods: Autofluorescence lifetimes of the retina were measured in two spectral channels (498-560 nm and 560-720 nm) in patients with choroideremia and age-matched healthy controls. Furthermore, autofluorescence intensities and spectral-domain optical coherence tomography (OCT) data were acquired and compared to fundus autofluorescence lifetime data...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27936069/multimodal-imaging-of-photoreceptor-structure-in-choroideremia
#9
Lynn W Sun, Ryan D Johnson, Vesper Williams, Phyllis Summerfelt, Alfredo Dubra, David V Weinberg, Kimberly E Stepien, Gerald A Fishman, Joseph Carroll
PURPOSE: Choroideremia is a progressive X-linked recessive dystrophy, characterized by degeneration of the retinal pigment epithelium (RPE), choroid, choriocapillaris, and photoreceptors. We examined photoreceptor structure in a series of subjects with choroideremia with particular attention to areas bordering atrophic lesions. METHODS: Twelve males with clinically-diagnosed choroideremia and confirmed hemizygous mutations in the CHM gene were examined. High-resolution images of the retina were obtained using spectral domain optical coherence tomography (SD-OCT) and both confocal and non-confocal split-detector adaptive optics scanning light ophthalmoscope (AOSLO) techniques...
2016: PloS One
https://www.readbyqxmd.com/read/27862925/gene-and-cell-based-therapies-for-inherited-retinal-disorders-an-update
#10
Jesse D Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral, Stephen H Tsang
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#11
Ľ Ďuďáková, B Kousal, H Kolářová, L Hlavatá, P Lišková
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i...
2016: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/27820636/the-spectrum-of-chm-gene-mutations-in-choroideremia-and-their-relationship-to-clinical-phenotype
#12
Matthew P Simunovic, Jasleen K Jolly, Kanmin Xue, Thomas L Edwards, Markus Groppe, Susan M Downes, Robert E MacLaren
Purpose: We report the underlying genotype and explore possible genotypic-phenotypic correlations in a large cohort of choroideremia patients. Methods: We studied prospectively a cohort of 79 patients diagnosed within a tertiary referral service for patients with retinal dystrophies. Phenotypic evaluation consisted of clinical examination, including visual acuity and residual retinal area by fundus autofluorescence (FAF). Genotype was established by sequencing. We also investigated whether particular genotypes were associated with more severe phenotypes by performing analysis of covariance (ANCOVA), with visual acuity and FAF as the dependent variables and age as the covariant...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27750291/a-qualitative-and-quantitative-assessment-of-fundus-autofluorescence-patterns-in-patients-with-choroideremia
#13
Jasleen K Jolly, Thomas L Edwards, Jonathan Moules, Markus Groppe, Susan M Downes, Robert E MacLaren
Purpose: We set out to characterize the pattern of fundus autofluorescence (AF) loss in choroideremia (CHM) patients of varying ages and disease severity in order to determine the average rate of progression of this potential disease biomarker. Methods: Fifty consecutive CHM patients (100 eyes) attending outpatient clinics at Oxford Eye Hospital underwent analysis with the Heidelberg OCT Spectralis with autofluorescence capabilities. The area of residual AF was traced using Heidelberg Eye Explorer...
August 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27739455/novel-chm-mutations-identified-in-chinese-families-with-choroideremia
#14
Xue-Bi Cai, Xiu-Feng Huang, Yi Tong, Qin-Kang Lu, Zi-Bing Jin
Choroideremia is a bilateral and progressive X-linked inherited disease characterized by widespread chorioretinal atrophy with relative sparing of the macular region. It is caused by mutations in the ubiquitously expressed CHM gene, which lead to the absence of the Rab escort protein 1 (REP-1), resulting in prenylation deficiency. Typical fundus appearances for choroideremia were found in 3 probands from three unrelated Chinese families in our study. We firstly used the targeted exome sequencing (TES) technology to detect mutations in CHM gene...
October 14, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27685498/a-case-of-cone-dystrophy-associated-with-choroidal-neovascularization
#15
Gokhan Gulkilik, Sevil Karaman Erdur, Mustafa Eliacik, Mahmut Odabasi, Mustafa Ozsutcu, Goktug Demirci, Mehmet Selim Kocabora
PURPOSE: To report a case of choroidal neovascularization (CNV) in a patient with cone dystrophy (CD). METHODS: Case report. RESULTS: A 20-year-old woman presented with diminished vision in her right eye. Fundus examination showed perifoveal retinal pigment epithelial changes and retinal hemorrhage consistent with subretinal CNV in the right eye, and mild retinal pigment epithelial changes with a dull foveal reflex in the left eye. Optical coherence tomography analysis and fundus fluorescein angiography also confirmed the subfoveal CNV in the right eye...
September 28, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27599108/phenotyping-choroideremia-and-its-carrier-state-with-multimodal-imaging-techniques
#16
Kevin K Ma, James Lin, Katherine Boudreault, Royce W S Chen, Stephen H Tsang
PURPOSE: To describe findings in a patient with choroideremia (CHM) and his mother, an obligate CHM carrier. METHODS: Case report. RESULTS: A 25-year-old man with nyctalopia and poor peripheral vision since childhood, as well as a family history consistent with an X-linked retinal disorder was diagnosed with CHM. His asymptomatic 50-year-old mother, an obligate carrier, was also examined. Fundus examination of the affected man showed significant atrophy of the choroid and retinal pigment epithelium, whereas the carrier woman showed patchy pigmentary mottling...
January 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27537265/microperimetry-as-an-outcome-measure-in-choroideremia-trials-reproducibility-and-beyond
#17
Ioannis S Dimopoulos, Calvin Tseng, Ian M MacDonald
PURPOSE: To determine test-retest repeatability of microperimetry testing (MP) in choroideremia (CHM) subjects using standard and personalized stimulus grids. METHODS: Fifteen CHM subjects (28 eyes) underwent consecutive repeat examinations with the Macular Integrity Assessment (MAIA) microperimeter using a standard (10°) and a customized macular grid adapted to individual macular pathology. Repeatability of standard-grid mean (MS) and point-wise (PWS) sensitivity was determined and compared with age-matched controls (seven eyes), with PWS separately analyzed for loci within and outside the border of degeneration...
August 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27506488/clinical-and-genetic-features-of-choroideremia-in-childhood
#18
Kamron N Khan, Farrah Islam, Anthony T Moore, Michel Michaelides
PURPOSE: To review the functional and anatomic characteristics of choroideremia in the pediatric population, aiming to describe the earliest features of the disease and to identify biomarkers useful for monitoring disease progression. DESIGN: Retrospective case series. PARTICIPANTS: Children diagnosed with choroideremia at a single institution. METHODS: Patients were identified using an electronic patient record system...
October 2016: Ophthalmology
https://www.readbyqxmd.com/read/27409497/visual-function-and-central-retinal-structure-in-choroideremia
#19
Elise Heon, Talal Alabduljalil, David B McGuigan III, Artur V Cideciyan, Shuning Li, Shiyi Chen, Samuel G Jacobson
PURPOSE: To define the clinical phenotype of a cohort of patients affected with choroideremia. METHODS: A retrospective study of patients with choroideremia included two centers. Data collected included age, visual acuity, refractive error, color vision, kinetic perimetry, optical coherence tomography (OCT), and genotype information. RESULTS: Sixty male participants were recruited. Genotype information was available for 58 cases, and nonsense mutations were most commonly observed...
1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27403996/correlation-of-optical-coherence-tomography-and-autofluorescence-in-the-outer-retina-and-choroid-of-patients-with-choroideremia
#20
Kanmin Xue, Marta Oldani, Jasleen K Jolly, Thomas L Edwards, Markus Groppe, Susan M Downes, Robert E MacLaren
PURPOSE: To evaluate the relationships between RPE, photoreceptor, and choroidal degeneration in choroideremia. METHODS: Enhanced-depth imaging optical coherence tomography (EDI-OCT), scanning laser ophthalmoscopy (SLO), and autofluorescence (AF) were performed on 39 patients (78 eyes) with choroideremia. The edges of surviving outer retina on OCT and residual AF were aligned. The distribution of outer retinal tubulations was mapped over a range of ages (16-71 years), and comparison made between pre- and postsubretinal gene therapy...
July 1, 2016: Investigative Ophthalmology & Visual Science
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