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Choroideremia

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https://www.readbyqxmd.com/read/28643494/identification-of-pathogenic-variants-in-the-chm-gene-in-two-korean-patients-with-choroideremia
#1
Kunho Bae, Ju Sun Song, Chung Lee, Nayoung K D Kim, Woong Yang Park, Byoung Joon Kim, Chang Seok Ki, Sang Jin Kim
Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c...
September 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28630650/a-maternally-inherited-8-05%C3%A2-mb-xq21-deletion-associated-with-choroideremia-deafness-and-mental-retardation-syndrome-in-a-male-patient
#2
Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang, Dongyi Yu
BACKGROUND: Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported. CASE PRESENTATION: Here we describe a 17-year-old male with choroideremia, deafness, and mental retardation syndrome. Using SNP arrays, an 8.05 Mb deletion in Xq21 was identified inherited from the apparently healthy mother...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28520608/choroideremia
#3
Ioannis S Dimopoulos, Alina Radziwon, Chris D St Laurent, Ian M MacDonald
PURPOSE OF REVIEW: Although much has been written to define the phenotype and genotype of choroideremia (CHM), research continues to provide new insights that serve to better understand its pathogenesis and the directions for potential experimental therapies. RECENT FINDINGS: We would like to highlight new findings, expanding the type of disease-causing mutations to include mutations in the CHM promoter that will dramatically influence gene expression. Information derived from careful phenotyping of patients points increasingly to the central role of the retinal pigment epithelium as the key cell layer affected in the degenerative process...
May 17, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28499705/measurement-and-reproducibility-of-preserved-ellipsoid-zone-area-and-preserved-rpe-area-in-a-cohort-of-eyes-with-choroideremia
#4
Amir H Hariri, Swetha B Velaga, Aniz Girach, Michael S Ip, Phuc V Le, Byron L Lam, M Dominik Fischer, Eeva-Marja Sankila, Mark Pennesi, Frank G Holz, Robert E MacLaren, David G Birch, Carel B Hoyng, Ian M MacDonald, Graeme C Black, Stephen H Tsang, Neil M Bressler, Michael Larsen, Michael B Gorin, Andrew R Webster, SriniVas R Sadda
PURPOSE: To identify valid and reproducible methods for quantifying anatomical outcome measures for eyes with choroideremia (CHM) in clinical trials. DESIGN: Reliability analysis study. METHODS: In this multicenter study, patients with confirmed genetic diagnosis of CHM were enrolled. All cases underwent spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging. Two graders independently delineated boundaries of preserved autofluorescence (PAF) and preserved ellipsoid zone (EZ) on FAF and OCT images respectively...
May 9, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28393043/leber-s-congenital-amaurosis-and-the-role-of-gene-therapy-in-congenital-retinal-disorders
#5
REVIEW
Walid Sharif, Zuhair Sharif
Leber's congenital amaurosis (LCA) and recent gene therapy advancement for treating inherited retinopathies were extensive literature reviewed using MEDLINE, PubMed and EMBASE. Adeno-associated viral vectors were the most utilised vectors for ocular gene therapy. Cone photoreceptor cells might use an alternate pathway which was not reliant of the retinal pigment epithelium (RPE) derived retinoid isomerohydrolase (RPE65) to access the 11-cis retinal dehydechromophore. Research efforts dedicated on the progression of a gene-based therapy for the treatment of LCA2...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28376043/multimodal-imaging-of-mosaic-retinopathy-in-carriers-of-hereditary-x-linked-recessive-diseases
#6
An-Lun Wu, Jung-Pan Wang, Yun-Ju Tseng, Laura Liu, Yu-Chuan Kang, Kuan-Jen Chen, An-Ning Chao, Lung-Kun Yeh, Tun-Lu Chen, Yih-Shiou Hwang, Wei-Chi Wu, Chi-Chun Lai, Nan-Kai Wang
PURPOSE: To investigate the clinical features in carriers of X-linked retinitis pigmentosa, X-linked ocular albinism, and choroideremia (CHM) using multimodal imaging and to assess their diagnostic value in these three mosaic retinopathies. METHODS: We prospectively examined 14 carriers of 3 X-linked recessive disorders (X-linked retinitis pigmentosa, X-linked ocular albinism, and CHM). Details of abnormalities of retinal morphology were evaluated using fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain optical coherence tomography...
April 3, 2017: Retina
https://www.readbyqxmd.com/read/28369842/novel-non-contiguous-exon-duplication-in-choroideremia
#7
Thomas L Edwards, Jonathan Williams, Maria I Patrício, Matthew P Simunovic, Morag Shanks, Penny Clouston, Robert E MacLaren
The importance of establishing a genetic diagnosis in patients with a choroideremia phenotype has been underscored by the advent of gene replacement therapy for this condition. Here we describe a complex imbalance at the CHM locus in a male patient with classical disease. At the DNA level, this imbalance consists of two non-contiguous duplications (exons 1-2, and 9-12). Further characterization suggests the generation of two independent CHM transcriptional units, one of which may produce a deleted form of the REP1 protein...
March 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28325286/inclusion-of-the-woodchuck-hepatitis-virus-posttranscriptional-regulatory-element-enhances-aav2-driven-transduction-of-mouse-and-human-retina
#8
Maria I Patrício, Alun R Barnard, Harry O Orlans, Michelle E McClements, Robert E MacLaren
The woodchuck hepatitis virus posttranscriptional regulatory element (WPRE) has been included in the transgene cassette of adeno-associated virus (AAV) in several gene therapy clinical trials, including those for inherited retinal diseases. However, the extent to which WPRE increases transgene expression in the retina is still unclear. To address this question, AAV2 vectors containing a reporter gene with and without WPRE were initially compared in vitro and subsequently in vivo by subretinal delivery in mice...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28280483/outer-plexiform-layer-structures-are-not-altered-following-aav-mediated-gene-transfer-in-healthy-rat-retina
#9
Bert C Giers, Daniela Klein, Alexandra Mendes-Madeira, Carolina Isiegas, Birgit Lorenz, Silke Haverkamp, Knut Stieger
Ocular gene therapy approaches have been developed for a variety of different diseases. In particular, clinical gene therapy trials for RPE65 mutations, X-linked retinoschisis, and choroideremia have been conducted at different centers in recent years, showing that adeno-associated virus (AAV)-mediated gene therapy is safe, but limitations exist as to the therapeutic benefit and long-term duration of the treatment. The technique of vector delivery to retinal cells relies on subretinal injection of the vector solution, causing a transient retinal detachment...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28271634/choroideremia-melanopsin-mediated-postillumination-pupil-relaxation-is-abnormally-slow
#10
Shakoor Ba-Ali, Søren Kirchhoff Christensen, Birgit Sander, Thomas Rosenberg, Michael Larsen, Henrik Lund-Andersen
PURPOSE: To investigate the rod-cone and melanopsin pupillary light response (PLR) pathways in choroideremia. METHODS: Eight patients with choroideremia and 18 healthy age-matched controls underwent chromatic pupillometry by applying blue (463 nm) and red light (643 nm) at 100 lux intensity to the right eye while recording pupil diameters. Absolute baseline pupil size (mm), normalized maximal pupil constriction and the early and late postillumination pupillary dilation, from 0 to 10 seconds and 10 to 30 seconds after the end of illumination, respectively, were determined...
March 8, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28271586/single-base-substitutions-in-the-chm-promoter-as-a-cause-of-choroideremia
#11
Alina Radziwon, Gavin Arno, Dianna K Wheaton, Ellen M McDonagh, Emma L Baple, Kaylie Webb-Jones, David G Birch, Andrew R Webster, Ian M MacDonald
Although over 150 unique mutations affecting the coding sequence of CHM have been identified in patients with the X-linked chorioretinal disease choroideremia (CHM), no regulatory mutations have been reported, and indeed the promoter has not been defined. Here, we describe two independent families affected by CHM bearing a mutation outside the gene's coding region at position c.-98: C>A and C>T, which segregated with the disease. The male proband of family 1 was found to lack CHM mRNA and its gene product Rab escort protein 1, whereas whole-genome sequencing of an affected male in family 2 excluded the involvement of any other known retinal genes...
June 2017: Human Mutation
https://www.readbyqxmd.com/read/28230863/oncogenic-role-of-rab-escort-protein-1-through-egfr-and-stat3-pathway
#12
Un-Jung Yun, Jee Young Sung, Seog-Yun Park, Sang-Kyu Ye, Jaegal Shim, Jae-Seon Lee, Masahiko Hibi, Young-Ki Bae, Yong-Nyun Kim
Rab escort protein-1 (REP1) is linked to choroideremia (CHM), an X-linked degenerative disorder caused by mutations of the gene encoding REP1 (CHM). REP1 mutant zebrafish showed excessive cell death throughout the body, including the eyes, indicating that REP1 is critical for cell survival, a hallmark of cancer. In the present study, we found that REP1 is overexpressed in human tumor tissues from cervical, lung, and colorectal cancer patients, whereas it is expressed at relatively low levels in the normal tissue counterparts...
February 23, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28152124/structural-and-functional-recovery-following-limited-iatrogenic-macular-detachment-for-retinal-gene-therapy
#13
RANDOMIZED CONTROLLED TRIAL
Matthew P Simunovic, Kanmin Xue, Jasleen K Jolly, Robert E MacLaren
Importance: The early decline and recovery of retinal structure and function following iatrogenic macular detachment for retinal gene therapy is not well characterized in those with relatively preserved central visual function. Here, the recovery of retinal structure and function over the first month following iatrogenic retinal detachment for the delivery of adeno-associated viral vector encoding Rab Escort Protein 1 is described as a part of gene therapy for choroideremia. Objective: To study changes in both retinal structure and function during the first month following iatrogenic macular detachment surgery...
March 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28112135/genetic-analysis-and-clinical-phenotype-of-two-indian-families-with-x-linked-choroideremia
#14
Rajani Battu, Nallathambi Jeyabalan, Praveen Murthy, Kavita S Reddy, Jan Sag Schouten, Caroll A Webers
PURPOSE: This study aims to describe the phenotype and genotype of two Indian families affected with X-linked choroideremia (CHM). MATERIALS AND METHODS: In these two families, the affected individuals and unaffected family members underwent a comprehensive ophthalmic examination including an optical coherence tomography (OCT) and electroretinogram. Blood samples were collected from the families for genetic analysis. Next generation sequencing (NGS) was done using a panel of 184 genes, which covered previously associated genes with retinal dystrophies...
December 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28101400/choriocapillaris-evaluation-in-choroideremia-using-optical-coherence-tomography-angiography
#15
Simon S Gao, Rachel C Patel, Nieraj Jain, Miao Zhang, Richard G Weleber, David Huang, Mark E Pennesi, Yali Jia
The choriocapillaris plays an important role in supporting the metabolic demands of the retina. Studies of the choriocapillaris in disease states with optical coherence tomography angiography (OCTA) have proven insightful. However, image artifacts complicate the identification and quantification of the choriocapillaris in degenerative diseases such as choroideremia. Here, we demonstrate a supervised machine learning approach to detect intact choriocapillaris based on training with results from an expert grader...
January 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#16
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
March 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28062428/optical-coherence-tomography-angiography-and-fundus-autofluorescence-in-the-eyes-with-choroideremia
#17
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
#18
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
#19
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
#20
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...
2017: Handbook of Experimental Pharmacology
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