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Choroideremia

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https://www.readbyqxmd.com/read/28937528/long-term-follow-up-of-patients-with-choroideremia-with-scleral-pits-and-tunnels-as-a-novel-observation
#1
Sanne M van Schuppen, Mays Talib, Arthur A Bergen, Jacoline B Ten Brink, Ralph J Florijn, Camiel J F Boon, Mary J van Schooneveld
PURPOSE: To evaluate the long-term clinical course and visual outcome of patients with choroideremia. METHODS: Clinical examination, a social questionnaire, and medical records review of 21 patients with choroideremia from 14 families. RESULTS: The mean follow-up time was 25.2 years (SD: 13.3; range 2-57 years). The mean age at symptom onset was 15.1 years (SD: 10.1; range 5-40 years). Best-corrected visual acuity was stable until the age of 35 (P = 0...
September 20, 2017: Retina
https://www.readbyqxmd.com/read/28911202/pathogenicity-of-a-novel-missense-variant-associated-with-choroideremia-and-its-impact-on-gene-replacement-therapy
#2
Simona Torriano, Nejla Erkilic, Valérie Faugère, Krishna Damodar, Christian P Hamel, Anne-Francoise Roux, Vasiliki Kalatzis
Choroideremia (CHM) is an inherited retinal dystrophy characterised by progressive degeneration of photoreceptors, retinal pigment epithelium (RPE) and underlying choroid. It is caused by loss-of-function mutations in CHM, which has an X-linked inheritance, and is thus an ideal candidate for gene replacement strategies. CHM encodes REP1, which plays a key role in the prenylation of Rab GTPases. We recently showed that an induced pluripotent stem cell (iPSc)-derived RPE model for CHM is fully functional and reproduces the underlying prenylation defect...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28902331/quantitative-and-qualitative-features-of-spectral-domain-optical-coherence-tomography-provide-prognostic-indicators-for-visual-acuity-in-patients-with-choroideremia
#3
Alessandro Abbouda, Wei Sing Lim, Lina Sprogyte, Andrew R Webster, Mariya Moosajee
BACKGROUND AND OBJECTIVE: To identify qualitative and quantitative features of spectral-domain optical coherence tomography (SD-OCT) as prognostic indicators of visual acuity (VA) loss in patients with choroideremia (CHM). PATIENTS AND METHODS: Retrospective study of 57 male patients with CHM. Central foveal thickness (CFT), subfoveal choroidal thickness (SCT), fundus autofluorescence area, and evidence of outer retinal and choroidal degeneration were analyzed by SD-OCT...
September 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28820183/technique-of-retinal-gene-therapy-delivery-of-viral-vector-into-the-subretinal-space
#4
K Xue, M Groppe, A P Salvetti, R E MacLaren
PurposeSafe and reproducible delivery of gene therapy vector into the subretinal space is essential for successful targeting of the retinal pigment epithelium (RPE) and photoreceptors. The success of surgery is critical for the clinical efficacy of retinal gene therapy. Iatrogenic detachment of the degenerate (often adherent) retina in patients with hereditary retinal degenerations and small volume (eg, 0.1 ml) subretinal injections pose new surgical challenges.MethodsOur subretinal gene therapy technique involved pre-operative planning with optical coherence tomography (OCT) and autofluorescence (AF) imaging, 23 G pars plana vitrectomy, internal limiting membrane staining with Membrane Blue Dual (DORC BV, Zuidland, Netherlands), a two-step subretinal injection using a 41 G Teflon tipped cannula (DORC) first with normal saline to create a parafoveal bleb followed by slow infusion of viral vector via the same self-sealing retinotomy...
September 2017: Eye
https://www.readbyqxmd.com/read/28800019/the-natural-history-of-full-field-stimulus-threshold-decline-in-choroideremia
#5
Ioannis S Dimopoulos, Paul R Freund, Jacob A Knowles, Ian M MacDonald
PURPOSE: To evaluate full-field sensitivity thresholds (FSTs) across a wide range of choroideremia (CHM) disease stages and to determine their applicability as functional endpoints for CHM clinical trials. METHODS: Thirty CHM subjects (60 eyes) and 50 healthy controls (50 eyes) underwent FST testing under dark-adapted conditions to determine rod- and cone-mediated FSTs. Central retinal structure and function were assessed using fundus autofluorescence and microperimetry...
August 9, 2017: Retina
https://www.readbyqxmd.com/read/28774736/rep1-copy-number-variation-is-an-important-genetic-cause-of-choroideremia-in-chinese-patients
#6
Qi Zhou, Fengxia Yao, Xiaoxu Han, Hui Li, Lizhu Yang, Ruifang Sui
Choroidermia (CHM) is an X-linked chorioretinal disorder caused by mutations in the Rab Escort Protein 1 (Rep-1) gene. Its diagnosis depends on clinical findings and genetic confirmation; however, mutations in Rep-1 gene are not always detected by standard Sanger sequencing. We therefore conducted multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR (QPCR) in cases of Chinese CHM families in which sequencing all the exons and flanking intronic regions of the CHM gene had not identified a mutation or exons could not be amplified...
July 31, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28753983/outcome-of-full-thickness-macular-hole-surgery-in-choroideremia
#7
Mays Talib, Leonoor S Koetsier, Robert E MacLaren, Camiel J F Boon
The development of a macular hole is relatively common in retinal dystrophies eligible for gene therapy such as choroideremia. However, the subretinal delivery of gene therapy requires an uninterrupted retina to allow dispersion of the viral vector. A macular hole may thus hinder effective gene therapy. Little is known about the outcome of macular hole surgery and its possible beneficial and/or adverse effects on retinal function in patients with choroideremia. We describe a case of a unilateral full-thickness macular hole (FTMH) in a 45year-old choroideremia patient (c...
July 21, 2017: Genes
https://www.readbyqxmd.com/read/28752371/retinal-dystrophy-and-subretinal-drusenoid-deposits-in-female-choroideremia-carriers
#8
Vittoria Murro, Dario Pasquale Mucciolo, Ilaria Passerini, Simona Palchetti, Andrea Sodi, Gianni Virgili, Stanislao Rizzo
PURPOSE: To describe clinical and molecular characteristics in a group of Italian female choroideremia (CHM) carriers and report fundus patterns. METHODS: We retrospectively studied 11 female carriers belonging to six CHM families examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration patients with a comprehensive ophthalmological examination, fundus photography, optical coherence tomography (OCT), full field electro-retinography (ERG), and visual field (VF)...
July 27, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28673870/fluorescence-lifetime-imaging-ophthalmoscopy
#9
REVIEW
Chantal Dysli, Sebastian Wolf, Mikhail Y Berezin, Lydia Sauer, Martin Hammer, Martin S Zinkernagel
Imaging techniques based on retinal autofluorescence have found broad applications in ophthalmology because they are extremely sensitive and noninvasive. Conventional fundus autofluorescence imaging measures fluorescence intensity of endogenous retinal fluorophores. It mainly derives its signal from lipofuscin at the level of the retinal pigment epithelium. Fundus autofluorescence, however, can not only be characterized by the spatial distribution of the fluorescence intensity or emission spectrum, but also by a characteristic fluorescence lifetime function...
June 30, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28643494/identification-of-pathogenic-variants-in-the-chm-gene-in-two-korean-patients-with-choroideremia
#10
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
#11
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
#12
REVIEW
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...
September 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28499705/measurement-and-reproducibility-of-preserved-ellipsoid-zone-area-and-preserved-retinal-pigment-epithelium-area-in-eyes-with-choroideremia
#13
MULTICENTER STUDY
Amir H Hariri, Swetha B Velaga, Aniz Girach, Michael S Ip, Phuc V Le, Byron L Lam, M Dominik Fischer, Eeva-Marja Sankila, Mark E 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 anatomic 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 (SDOCT) 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...
July 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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