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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...
November 8, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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
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
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
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
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
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...
September 2, 2016: Retinal Cases & Brief Reports
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
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
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...
July 1, 2016: Investigative Ophthalmology & Visual Science
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
Satoshi Katagiri, Takaaki Hayashi, Tamaki Gekka, Hiroshi Tsuneoka
No abstract text is available yet for this article.
June 27, 2016: Ophthalmic Genetics
Rachel C Patel, Simon S Gao, Miao Zhang, Talal Alabduljalil, Abdullah Al-Qahtani, Richard G Weleber, Paul Yang, Yali Jia, David Huang, Mark E Pennesi
PURPOSE: To demonstrate the clinical utility of optical coherence tomography (OCT) angiography (OCT-A) in inherited retinal dystrophies complicated by choroidal neovascularization (CNV). METHODS: Optical coherence tomography angiography and structural OCT were performed using a 70-kHz spectral domain OCT system using the split-spectrum amplitude-decorrelation angiography algorithm. Semiautomated image processing software was used to segment and measure the CNV. RESULTS: Four participants were enrolled to study the following inherited retinal dystrophies complicated by CNV: choroideremia, EFEMP1-related retinopathy, Best vitelliform dystrophy, and adult-onset vitelliform dystrophy...
December 2016: Retina
Mariya Moosajee, Dhani Tracey-White, Matthew Smart, Marla Weetall, Simona Torriano, Vasiliki Kalatzis, Lyndon da Cruz, Peter Coffey, Andrew R Webster, Ellen Welch
Choroideremia (CHM) is an X-linked chorioretinal dystrophy that is caused by mutations within a single gene, CHM Currently no effective treatment exists for these patients. Since over 30% of patients harbour nonsense mutations in CHM, nonsense suppression therapy using translational readthrough inducing drugs may provide functional rescue of REP1, thus attenuating progressive sight loss. Here, we employed two CHM model systems to systematically test the efficacy and safety of ataluren (PTC124) and its novel analog PTC-414: (1) the chm(ru848) zebrafish, the only nonsense mutation animal model of CHM harbouring a TAA nonsense mutation, and (2) a primary human fibroblast cell line from a CHM patient harbouring a TAG nonsense mutation...
June 21, 2016: Human Molecular Genetics
Paul R Freund, Yuri V Sergeev, Ian M MacDonald
BACKGROUND: Choroideremia (CHM) is an X-linked degeneration of the retinal pigment epithelium, photoreceptors, and choroid, which causes nyctalopia and progressive constriction of visual fields leading to blindness. The CHM gene encodes Rab escort protein 1 (REP-1). In this work, we reviewed the phenotypes and genotypes of affected males with the purpose of understanding the functional effects of CHM mutations and their relationship with the phenotypes. METHODS: A retrospective review of 128 affected males was performed analyzing the onset of symptoms, visual acuity, and visual fields with respect to their mutations in the CHM gene...
May 2016: Molecular Genetics & Genomic Medicine
Nieraj Jain, Yali Jia, Simon S Gao, Xinbo Zhang, Richard G Weleber, David Huang, Mark E Pennesi
IMPORTANCE: Novel therapies for choroideremia, an X-linked recessive chorioretinal degeneration, demand a better understanding of the primary site(s) of cellular degeneration. Optical coherence tomography angiography allows for choriocapillaris (CC) imaging. We compared the extent of structural alterations of the CC, retinal pigment epithelium, and photoreceptors with multimodal imaging. OBSERVATIONS: In a clinical case series conducted from September 15, 2014, through February 5, 2015, 14 eyes of 7 male patients with choroideremia (median age, 34 years [interquartile range, 15-46 years]; age range, 13-48 years), 4 eyes of 2 women with choroideremia carrier state (both in mid-50s), and 6 eyes of 6 controls (median age, 42...
June 1, 2016: JAMA Ophthalmology
Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso
Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase (GGTase) complex. In the present study, we evaluated a multi-technique analysis algorithm to describe the mutational spectrum identified in a large cohort of cases and further correlate CHM variants with phenotypic characteristics and biochemical defects of choroideremia patients...
2016: PloS One
Nicolas Nabholz, Marie-Céline Lorenzini, Béatrice Bocquet, Annie Lacroux, Valérie Faugère, Anne-Françoise Roux, Vasiliki Kalatzis, Isabelle Meunier, Christian P Hamel
No abstract text is available yet for this article.
August 2016: Ophthalmology
Stephanie C Chan, Tania Bubela, Ioannis S Dimopoulos, Paul R Freund, Amir K Varkouhi, Ian M MacDonald
PURPOSE: To discuss progress in research on choroideremia (CHM) and related retinopathies with special emphasis on gene therapy approaches. METHODS: Biomedical and clinical researchers from across the world as well as representatives of the social science research community were convened to the 2nd International Scientific Symposium for Choroideremia in Denver, Colorado in June 2014 to enhance our understanding of CHM and accelerate the translation of research to clinical application for the benefit of those affected by CHM...
September 2016: Ophthalmic Genetics
Alice Yang Zhang, Naveen Mysore, Hojatollah Vali, Jamie Koenekoop, Sang Ni Cao, Shen Li, Huanan Ren, Vafa Keser, Irma Lopez-Solache, Sorath Noorani Siddiqui, Ayesha Khan, Jeannie Mui, Kelly Sears, Jim Dixon, Jeremy Schwartzentruber, Jacek Majewski, Nancy Braverman, Robert K Koenekoop
PURPOSE: Photoreceptor neuronal degenerations are common, incurable causes of human blindness affecting 1 in 2000 patients worldwide. Only half of all patients are associated with known mutations in over 250 disease genes, prompting our research program to identify the remaining new genes. Most retinal degenerations are restricted to the retina, but photoreceptor degenerations can also be found in a wide variety of systemic diseases. We identified an X-linked family from Sri Lanka with a severe choroidal degeneration and postulated a new disease entity...
December 2015: Investigative Ophthalmology & Visual Science
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