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Choroideremia

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https://www.readbyqxmd.com/read/28230863/oncogenic-role-of-rab-escort-protein-1-through-egfr-and-stat3-pathway
#1
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
#2
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...
February 2, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28112135/genetic-analysis-and-clinical-phenotype-of-two-indian-families-with-x-linked-choroideremia
#3
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
#4
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
#5
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...
January 13, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28062428/optical-coherence-tomography-angiography-and-fundus-autofluorescence-in-the-eyes-with-choroideremia
#6
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
#7
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
#8
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
#9
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
#10
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...
January 19, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28002873/effects-of-pupil-dilation-on-maia-microperimetry
#11
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
#12
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...
March 2017: Ophthalmology
https://www.readbyqxmd.com/read/27951593/autofluorescence-lifetimes-in-patients-with-choroideremia-identify-photoreceptors-in-areas-with-retinal-pigment-epithelium-atrophy
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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