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Choroideremia

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https://www.readbyqxmd.com/read/29721948/identification-of-novel-deletions-as-the-underlying-cause-of-retinal-degeneration-in-two-pedigrees
#1
Kari Branham, Aditya A Guru, Igor Kozak, Pooja Biswas, Mohammad Othman, Kameron Kishaba, Hassan Mansoor, Sheikh Riazuddin, John R Heckenlively, S Amer Riazuddin, J Fielding Hejtmancik, Paul A Sieving, Radha Ayyagari
Retinal dystrophies are a phenotypically and genetically complex group of conditions. Because of this complexity, it can be challenging in many families to determine the inheritance based on pedigree analysis alone. Clinical examinations were performed and blood samples were collected from a North American (M1186) and a consanguineous Pakistani (PKRD168) pedigree affected with two different retinal dystrophies (RD). Based on the structure of the pedigrees, inheritance patterns in the families were difficult to determine...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29721931/antisense-oligonucleotide-based-splice-correction-of-a-deep-intronic-mutation-in-chm-underlying-choroideremia
#2
Alejandro Garanto, Saskia D van der Velde-Visser, Frans P M Cremers, Rob W J Collin
Choroideremia is a progressive genetic eye disorder caused by mutations in the CHM gene that encodes the Rab escort protein-1 (REP-1). One of the many CHM mutations described so far is a deep-intronic variant, c.315-4587T>A, that creates a novel splice acceptor site resulting in the insertion of a 98-bp pseudoexon in the CHM transcript. Antisense oligonucleotides (AONs) are a potential therapeutic tool for correcting splice defects, as they have the properties to bind to the pre-mRNA and redirect the splicing process...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29707603/the-biological-activity-of-aav-vectors-for-choroideremia-gene-therapy-can-be-measured-by-in-vitro-prenylation-of-rab6a
#3
Maria I Patrício, Alun R Barnard, Christopher I Cox, Clare Blue, Robert E MacLaren
Choroideremia (CHM) is a rare, X-linked recessive retinal dystrophy caused by mutations in the CHM gene. CHM is ubiquitously expressed in human cells and encodes Rab escort protein 1 (REP1). REP1 plays a key role in intracellular trafficking through the prenylation of Rab GTPases, a reaction that can be reproduced in vitro . With recent advances in adeno-associated virus (AAV) gene therapy for CHM showing gene replacement to be a promising approach, an assay to assess the biological activity of the vectors is of the uttermost importance...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29620233/a-frameshift-mutation-in-the-chm-gene-causes-choroideremia-with-acute-angle%C3%A2-closure-glaucoma
#4
Pingbo Ouyang, Yun Li, Feng Zhang, Chengzhang Zhu, Beiji Zou, Jianlan Le, Lusi Zhang
Choroideremia is an X‑linked recessive chorioretinal degenerative disease that is characterized by progressive centripetal loss of the photoreceptor, retinal pigment epithelium (RPE), and choriocapillaris layers. The CHM gene [choroideremia (Rab escort protein 1)] has been identified as the pathogenic gene in choroideremia. The aim of the present study was to describe the clinical and genetic characteristics of a family with choroideremia family. In the present study, a family with choroideremia presenting with serious chorioretinal atrophy and pigment proliferation, shallow anterior chambers, angle closure and high intraocular pressure (IOP) were recruited...
April 5, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29580667/retinal-degeneration-in-choroideremia-follows-an-exponential-decay-function
#5
James W Aylward, Kanmin Xue, Maria I Patrício, Jasleen K Jolly, Jonathan C Wood, Jonathan Brett, Kirti M Jasani, Robert E MacLaren
No abstract text is available yet for this article.
March 23, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29555028/molecular-genetics-%C3%A2-characterization-and-homology-modeling-of-the-chm-gene-mutation-a-study-on-its-association-with-choroideremia
#6
REVIEW
Saber Imani, Iqra Ijaz, Marzieh Dehghan Shasaltaneh, Shangyi Fu, Jingliang Cheng, Junjiang Fu
Choroideremia (CHM) is a rare form of X-linked chorioretinal dystrophy that is caused by mutations in the CHM gene. Mutations in the Rab escort protein-1 (REP-1), an ubiquitously encoded protein of the CHM gene, lead to prenylation and vesicle trafficking deficiency in the protein, resulting in the progressive degeneration of choriocapillaris, retinal pigment epithelium (RPE), and photoreceptors. Despite previous studies concerning this disease, no effective diagnostic tests or established therapeutic interventions currently exist for CHM...
January 2018: Mutation Research
https://www.readbyqxmd.com/read/29543633/vascular-alterations-revealed-with-optical-coherence-tomography-angiography-in-patients-with-choroideremia
#7
Maurizio Battaglia Parodi, Alessandro Arrigo, Robert E MacLaren, Emanuela Aragona, Lisa Toto, Rodolfo Mastropasqua, Maria Pia Manitto, Francesco Bandello
PURPOSE: Choroideremia is a rare degenerative retinal disease that causes incurable blindness. It occurs as a result of the deficiency of the X-linked CHM gene, which encodes the Rab escort protein 1 (REP1). Gene therapy has been developed to treat CHM using adeno-associated viral vectors and is currently undergoing clinical trials. Expression of the CHM gene is ubiquitous throughout the retina, and it is therefore important to identify which retinal layers are affected in the disease process...
March 14, 2018: Retina
https://www.readbyqxmd.com/read/29473871/impaired-cargo-clearance-in-the-retinal-pigment-epithelium-rpe-underlies-irreversible-blinding-diseases
#8
REVIEW
Eloise Keeling, Andrew J Lotery, David A Tumbarello, J Arjuna Ratnayaka
Chronic degeneration of the Retinal Pigment Epithelium (RPE) is a precursor to pathological changes in the outer retina. The RPE monolayer, which lies beneath the neuroretina, daily internalises and digests large volumes of spent photoreceptor outer segments. Impaired cargo handling and processing in the endocytic/phagosome and autophagy pathways lead to the accumulation of lipofuscin and pyridinium bis-retinoid A2E aggregates and chemically modified compounds such as malondialdehyde and 4-hydroxynonenal within RPE...
February 23, 2018: Cells
https://www.readbyqxmd.com/read/29414605/use-of-induced-pluripotent-stem-cell-models-to-probe-the-pathogenesis-of-choroideremia-and-to-develop-a-potential-treatment
#9
Thu T Duong, Vidyullatha Vasireddy, Pavitra Ramachandran, Pamela S Herrera, Lanfranco Leo, Carrie Merkel, Jean Bennett, Jason A Mills
Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited retinal degeneration resulting from mutations in the Rab Escort Protein-1 (REP1) encoding CHM gene. The primary retinal cell type leading to CHM is unknown. In this study, we explored the utility of induced pluripotent stem cell-derived models of retinal pigmented epithelium (iPSC-RPE) to study disease pathogenesis and a potential gene-based intervention in four different genetically distinct forms of CHM. A number of abnormal cell biologic, biochemical, and physiologic functions were identified in the CHM mutant cells...
March 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29411205/phenotypic-expansion-and-progression-of-spata7-associated-retinitis-pigmentosa
#10
Jesse D Sengillo, Winston Lee, Colleen G Bilancia, Vaidehi Jobanputra, Stephen H Tsang
PURPOSE: To report an unusual phenotype of retinitis pigmentosa (RP) caused by compound heterozygous mutations in SPATA7, and describe the progression over a two year follow-up period. METHODS: Retrospective case study. RESULTS: A 63-year-old man with a long history of nyctalopia, progressive visual field constriction, and a recent subacute decrease in visual acuity of the left eye presented for evaluation of a suspected retinal degeneration...
April 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29404760/colour-discrimination-ellipses-in-choroideremia
#11
Immanuel P Seitz, Jasleen K Jolly, M Dominik Fischer, Matthew P Simunovic
PURPOSE: The purpose of this study was to characterise alterations in colour discrimination in a cohort of patients with choroideremia prior to gene therapy, using a test previously validated for use in patients with retinal dystrophies. METHODS: We tested 20 eyes of 10 patients with a diagnosis of choroideremia and an age-matched cohort of 10 eyes of 10 normal controls using the "Cambridge Colour Test" (CCT), in which subjects are required to distinguish the gap in a C presented in one of 4 orientations in a Stilling-type array...
April 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29377744/misdiagnosis-of-x-linked-retinitis-pigmentosa-in-a-choroideremia-patient-with-heavily-pigmented-fundi
#12
A Nanda, A P Salvetti, C Martinez-Fernandez de la Camara, R E MacLaren
Inherited retinal diseases are thought to be the leading cause of sight loss in the working age population. Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively. In the first instance, an X-linked family history of visual field loss commonly raises the suspicion of one of these two genes. In choroideremia, the classic description of a white fundal reflex secondary to the widespread chorioretinal degeneration was made over a hundred years ago in Caucasians...
June 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29367200/novel-mutation-in-the-choroideremia-gene-and-multi-mendelian-phenotypes-in-spanish-families
#13
Marta de Castro-Miró, Raul Tonda, Gemma Marfany, Ricardo P Casaroli-Marano, Roser Gonzàlez-Duarte
AIMS: We aimed to accurately diagnose several retinitis pigmentosa (RP) patients with complex ocular phenotypes by combining massive sequencing genetic diagnosis and powerful clinical imaging techniques. METHODS: Whole-exome sequencing (WES) of selected patients from two RP families was undertaken. The variants identified were validated by Sanger sequencing and cosegregation analysis. Accurate clinical re-evaluation was performed using electrophysiological and visual field records as well as non-invasive imaging techniques, such as swept-source optical coherence tomography and fundus autofluorescence...
January 24, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29341445/automated-detection-of-preserved-photoreceptor-on-optical-coherence-tomography-in-choroideremia-based-on-machine-learning
#14
Zhuo Wang, Acner Camino, Ahmed M Hagag, Jie Wang, Richard G Weleber, Paul Yang, Mark E Pennesi, David Huang, Dengwang Li, Yali Jia
Optical coherence tomography (OCT) can demonstrate early deterioration of the photoreceptor integrity caused by inherited retinal degeneration diseases (IRD). A machine learning method based on random forests was developed to automatically detect continuous areas of preserved ellipsoid zone structure (an easily recognizable part of the photoreceptors on OCT) in sixteen eyes of patients with choroideremia (a type of IRD). Pseudopodial extensions protruding from the preserved ellipsoid zone areas are detected separately by a local active contour routine...
January 17, 2018: Journal of Biophotonics
https://www.readbyqxmd.com/read/29296092/evaluation-of-amplification-refractory-mutation-system-arms-technique-for-quick-and-accurate-prenatal-gene-diagnosis-of-chm-variant-in-choroideremia
#15
Lisha Yang, Iqra Ijaz, Jingliang Cheng, Chunli Wei, Xiaojun Tan, Md Asaduzzaman Khan, Xiaodong Fu, Junjiang Fu
Choroideremia is a rare X-linked recessive inherited disorder that causes chorioretinal dystrophy leading to visual impairment in its early stages which finally causes total blindness in the affected person. It is caused due to mutations in the CHM gene. In this study, we have recruited a pedigree with choroideremia and detected a nonsense variant (c.C799T:p.R267X) in CHM of the proband (I:1). Different primer sets for amplification refractory mutation system (ARMS) were designed and PCR conditions were optimized...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29188508/retinal-gene-therapy-for-choroideremia-in-vitro-testing-for-gene-augmentation-using-an-adeno-associated-viral-aav-vector
#16
Maria I Patrício, Robert E MacLaren
As gene therapy of choroideremia is becoming a clinical reality, there is a need for reliable and sensitive assays to determine the expression of exogenously delivered Rab Escort Protein-1 (REP1), in particular to test new gene therapy vectors and as a quality control screen for clinical vector stocks. Here we describe an in vitro protocol to test transgene expression following AAV2/2-REP1 transduction of a human cell line. Gene augmentation can be confirmed by western blot and quantification of the fold-increase of human REP1 levels over untransduced controls...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29160785/scleral-pits-in-choroideremia-implications-for-retinal-gene-therapy
#17
Abdullah A Al-Qahtani, Shakoor Ba-Ali, Talal Alabduljalil, Aaron S Coyner, Rachel C Patel, Richard G Weleber, Aniz Girach, Søren K Christensen, Michael Larsen, Mark E Pennesi, Paul Yang
PURPOSE: We report a novel finding on spectral domain optical coherence tomography in patients with choroideremia, which we describe as scleral pits (SCPs). METHODS: Cross-sectional observational case series of 36 patients with choroideremia, who underwent ophthalmic examination and multimodal imaging, including optical coherence tomography of the macula. Optical coherence tomography images were reviewed for SCP, which were defined as discrete tracts of hyporeflectivity that traverse the sclera with or without the involvement of Bruch membrane, retinal pigment epithelium, and retina...
November 16, 2017: Retina
https://www.readbyqxmd.com/read/29149824/the-role-of-gene-therapy-in-the-treatment-of-retinal-diseases-a-review
#18
C Campa, C E Gallenga, E Bolletta, P Perri
BACKGROUND: Gene therapy represents the therapeutic delivery of nucleic acid polymers into patient cells with the aim of treating an underlying disease. Over the past 2 decades this new therapy has made substantial progress owing to better understanding of the pathobiologic basis of various diseases coupled with growth of gene transfer biotechnologies. The eye, in particular, represents a suitable target for such therapy due to the immune privilege provided by the blood-ocular barrier, the ability to directly visualize, access and locally treat the cells and the minimal amount of vector needed given the size of this organ...
2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29148533/identifying-characteristic-features-of-the-retinal-and-choroidal-vasculature-in-choroideremia-using-optical-coherence-tomography-angiography
#19
A Abbouda, A M Dubis, A R Webster, M Moosajee
PurposeUsing optical coherence tomography angiography (OCTA) to investigate the area with flow in the superficial retinal vessel network (SVRN) and choriocapillaris (CC) layer among male subjects with choroideremia (CHM), female carriers, and normal controls to identify vascular changes.Patients and methodsImages of SRVN and CC layer were acquired in 9 affected males, 5 female carriers, and 14 age- and gender-matched controls using the Angiovue software of the RTVue XR Avanti.ResultsThe mean age was 33 years for affected male CHM patients (median 30 years), 46 years for female carriers (median 53 years), and 39 years for controls (median 38...
March 2018: Eye
https://www.readbyqxmd.com/read/29084330/characterizing-the-natural-history-of-visual-function-in-choroideremia-using-microperimetry-and-multimodal-retinal-imaging
#20
RANDOMIZED CONTROLLED TRIAL
Jasleen K Jolly, Kanmin Xue, Thomas L Edwards, Markus Groppe, Robert E MacLaren
Purpose: Centripetal retinal degeneration in choroideremia (CHM) leads to early visual field restriction and late central vision loss. The latter marks an acute decline in quality of life but visual prognostication remains challenging. We investigated visual function in CHM by correlating best-corrected visual acuity (BCVA), microperimetry and multimodal imaging. Methods: Fifty-six consecutive CHM patients attending Oxford Eye Hospital were examined with BCVA, 10-2 microperimetry, optical coherence tomography, and fundus autofluorescence (AF)...
October 1, 2017: Investigative Ophthalmology & Visual Science
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