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Inherited retinal diseases

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https://www.readbyqxmd.com/read/29343940/prescreening-whole-exome-sequencing-results-from-patients-with-retinal-degeneration-for-variants-in-genes-associated-with-retinal-degeneration
#1
Laura Bryant, Olga Lozynska, Albert M Maguire, Tomas S Aleman, Jean Bennett
Background: Accurate clinical diagnosis and prognosis of retinal degeneration can be aided by the identification of the disease-causing genetic variant. It can confirm the clinical diagnosis as well as inform the clinician of the risk for potential involvement of other organs such as kidneys. It also aids in genetic counseling for affected individuals who want to have a child. Finally, knowledge of disease-causing variants informs laboratory investigators involved in translational research...
2018: Clinical Ophthalmology
https://www.readbyqxmd.com/read/29341445/automated-detection-of-preserved-photoreceptor-on-optical-coherence-tomography-in-choroideremia-based-on-machine-learning
#2
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/29339962/three-new-pax2-gene-mutations-in-patients-with-papillorenal-syndrome
#3
Alberto Galvez-Ruiz, Anthony J Lehner, Alicia Galindo-Ferreiro, Patrik Schatz
Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic variant of the PAX2 gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for PAX2...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29320387/identification-of-inherited-retinal-disease-associated-genetic-variants-in-11-candidate-genes
#4
Galuh D N Astuti, L Ingeborgh van den Born, M Imran Khan, Christian P Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E El-Asrag, Lonneke Haer-Wigman, Chris F Inglehearn, Graeme C M Black, Carel B Hoyng, Frans P M Cremers, Susanne Roosing
Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogenic variants in the same candidate gene often is challenging. In this study, we searched for novel candidate IRD gene-associated variants in isolated IRD families, assessed their causality, and searched for novel genotype-phenotype correlations. Whole exome sequencing was performed in 11 probands affected with IRDs...
January 10, 2018: Genes
https://www.readbyqxmd.com/read/29300249/pigmented-paravenous-chorioretinal-atrophy-detailed-clinical-study-of-a-large-cohort
#5
Olajumoke A Shona, Farrah Islam, Anthony G Robson, Andrew R Webster, Anthony T Moore, Michel Michaelides
PURPOSE: To review and describe in detail the demographics, functional and anatomical characteristics, and clinical course of pigmented paravenous chorioretinal atrophy in a large cohort of adults and children. METHODS: This is a retrospective case series of consecutive patients diagnosed with pigmented paravenous chorioretinal atrophy at a single U.K. referral center from 1974 to 2016. Clinical records, retinal imaging (color fundus photography, fundus autofluorescence, and optical coherence tomography), and electrophysiological assessments were reviewed...
January 3, 2018: Retina
https://www.readbyqxmd.com/read/29290065/pathophysiology-of-primary-open-angle-glaucoma-from-a-neuroinflammatory-and-neurotoxicity-perspective-a-review-of-the-literature
#6
REVIEW
Karine Evangelho, Maria Mogilevskaya, Monica Losada-Barragan, Jeinny Karina Vargas-Sanchez
PURPOSE: Glaucoma is the leading cause of blindness in humans, affecting 2% of the population. This disorder can be classified into various types including primary, secondary, glaucoma with angle closure and with open angle. The prevalence of distinct types of glaucoma differs for each particular region of the world. One of the most common types of this disease is primary open-angle glaucoma (POAG), which is a complex inherited disorder characterized by progressive retinal ganglion cell death, optic nerve head excavation and visual field loss...
December 30, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29285067/morphologic-characteristics-and-clinical-significance-of-the-macular-sparing-area-in-patients-with-retinitis-pigmentosa-as-revealed-by-multicolor-imaging
#7
Guodong Liu, Qing Du, Khusbu Keyal, Fang Wang
Retinitis pigmentosa (RP) is an inherited retinal disease caused by the degeneration of photoreceptors and retinal pigment epithelium cells within the eye. The present study aimed to evaluate the effectiveness of multicolor imaging as a novel technique for the depiction of morphological features in the macular area of patients with RP. Additionally, the correlation between the size of the macular-sparing area and the best corrected visual acuity (BCVA), central visual field function and subfoveal choroidal thickness (SFCT) was analyzed...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29276052/nonsyndromic-retinitis-pigmentosa-in-the-ashkenazi-jewish-population-genetic-and-clinical-aspects
#8
Adva Kimchi, Samer Khateb, Rong Wen, Ziqiang Guan, Alexey Obolensky, Avigail Beryozkin, Shoshi Kurtzman, Anat Blumenfeld, Eran Pras, Samuel G Jacobson, Tamar Ben-Yosef, Hadas Newman, Dror Sharon, Eyal Banin
PURPOSE: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype-phenotype correlations. DESIGN: Cohort study. PARTICIPANTS: Retinitis pigmentosa patients from 230 families of AJ origin. METHODS: Sanger sequencing was performed to detect specific founder mutations known to be prevalent in the AJ population. Ophthalmologic analysis included a comprehensive clinical examination, visual acuity (VA), visual fields, electroretinography, color vision testing, and retinal imaging by OCT, pseudocolor, and autofluorescence fundus photography...
December 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29259527/%C3%A2-potential-of-gene-editing-and-induced-pluripotent-stem-cells-ipscs-in-treatment-of-retinal-diseases%C3%A2
#9
REVIEW
Katherine Chuang, Mark A Fields, Lucian V Del Priore
The advent of gene editing has introduced the ability to make changes to the genome of cells, thus allowing for correction of genetic mutations in patients with monogenic diseases. Retinal diseases are particularly suitable for the application of this new technology because many retinal diseases, such as Stargardt disease, retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA), are monogenic. Moreover, gene delivery techniques such as the use of adeno-associated virus (AAV) vectors have been optimized for intraocular use, and phase III trials are well underway to treat LCA, a severe form of inherited retinal degeneration, with gene therapy...
December 2017: Yale Journal of Biology and Medicine
https://www.readbyqxmd.com/read/29259518/%C3%A2-genome-surgery-and-gene-therapy-in-retinal-disorders
#10
REVIEW
Lawrence Chan, Vinit B Mahajan, Stephen H Tsang
The emergence of genome surgery techniques like the clustered regularly interspaced short palindromic repeats (CRISPR) editing technology has given researchers a powerful tool for precisely introducing targeted changes within the genome. New modifications to the CRISPR-Cas system have been made since its recent discovery, such as high-fidelity Cas9 variants to reduce off-target effects and transcriptional activation/silencing with CRISPRa/CRISPRi. The applications of CRISPR-Cas and gene therapy in ophthalmic diseases have been necessary and fruitful, especially given the impact of blinding diseases on society and the large number of monogenic disorders of the eye...
December 2017: Yale Journal of Biology and Medicine
https://www.readbyqxmd.com/read/29248984/different-cerebellar-ataxia-phenotypes-associated-with-mutations-of-the-pnpla6-gene-in-brazilian-patients-with-recessive-ataxias
#11
Hélio Afonso Ghizoni Teive, Carlos Henrique F Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B Seminara, Renato Puppi Munhoz
Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS-ataxia with chorioretinal dystrophy). Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations...
December 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/29246327/in%C3%A2-vivo-knockout-of-the-vegfa-gene-by-lentiviral-delivery-of-crispr-cas9-in-mouse-retinal-pigment-epithelium-cells
#12
Andreas Holmgaard, Anne Louise Askou, Josephine Natalia Esther Benckendorff, Emil Aagaard Thomsen, Yujia Cai, Toke Bek, Jacob Giehm Mikkelsen, Thomas J Corydon
Virus-based gene therapy by CRISPR/Cas9-mediated genome editing and knockout may provide a new option for treatment of inherited and acquired ocular diseases of the retina. In support of this notion, we show that Streptococcus pyogenes (Sp) Cas9, delivered by lentiviral vectors (LVs), can be used in vivo to selectively ablate the vascular endothelial growth factor A (Vegfa) gene in mice. By generating LVs encoding SpCas9 targeted to Vegfa, and in parallel the fluorescent eGFP marker protein, we demonstrate robust knockout of Vegfa that leads to a significant reduction of VEGFA protein in transduced cells...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29232904/an-expanded-multi-organ-disease-phenotype-associated-with-mutations-in-yars
#13
Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G M Bosch, Deborah Nickerson, Michael J Bamshad, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P M Cremers, Lisbeth Tranebjærg
Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease...
December 11, 2017: Genes
https://www.readbyqxmd.com/read/29232624/genomic-form-of-rhodopsin-dna-nanoparticles-rescued-autosomal-dominant-retinitis-pigmentosa-in-the-p23h-knock-in-mouse-model
#14
Rajendra Narayan Mitra, Min Zheng, Ellen R Weiss, Zongchao Han
Retinitis pigmentosa (RP) is a group of inherited retinal degenerative conditions and a leading cause of irreversible blindness. 25%-30% of RP cases are caused by inherited autosomal dominant (ad) mutations in the rhodopsin (Rho) protein of the retina, which impose a barrier for developing therapeutic treatments for this genetically heterogeneous disorder, as simple gene replacement is not sufficient to overcome dominant disease alleles. Previously, we have explored using the genomic short-form of Rho (sgRho) for gene augmentation therapy of RP in a Rho knockout mouse model...
December 5, 2017: Biomaterials
https://www.readbyqxmd.com/read/29229445/optical-coherence-tomography-angiography
#15
REVIEW
Richard F Spaide, James G Fujimoto, Nadia K Waheed, Srinivas R Sadda, Giovanni Staurenghi
Optical coherence tomography (OCT) was one of the biggest advances in ophthalmic imaging. Building on that platform, OCT angiography (OCTA) provides depth resolved images of blood flow in the retina and choroid with levels of detailed far exceeding that obtained with older forms of imaging. This new modality is challenging because of the need for new equipment and processing techniques, current limitations of imaging capability, and rapid advancements in both imaging and in our understanding of the imaging and applicable pathophysiology of the retina and choroid, and the requirement for understanding the origins of image artifacts...
December 8, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29224958/renal-involvement-in-neuropathy-ataxia-retinitis-pigmentosa-narp-syndrome-a-case-report
#16
Sandrine Lemoine, Marine Panaye, Maud Rabeyrin, Elisabeth Errazuriz-Cerda, Bénédicte Mousson de Camaret, Philippe Petiot, Laurent Juillard, Fitsum Guebre-Egziabher
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at age 21 years. Mutations of mitochondrial DNA (mtDNA) are maternally inherited and lead to mitochondrial cytopathies with predominant neurologic manifestations: psychomotor retardation, epilepsy, ataxia, neuropathy, and myopathy. Given the ubiquitous nature of mitochondria, cellular dysfunction can also appear in tissues with high metabolic turnover; thus, there can be cardiac, digestive, ophthalmologic, and kidney complications...
December 7, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29202463/patients-and-animal-models-of-cng%C3%AE-1-deficient-retinitis-pigmentosa-support-gene-augmentation-approach
#17
Simon M Petersen-Jones, Laurence M Occelli, Paige A Winkler, Winston Lee, Janet R Sparrow, Mai Tsukikawa, Sanford L Boye, Vince Chiodo, Jenina E Capasso, Elvir Becirovic, Christian Schön, Mathias W Seeliger, Alex V Levin, Stylianos Michalakis, William W Hauswirth, Stephen H Tsang
Retinitis pigmentosa (RP) is a major cause of blindness that affects 1.5 million people worldwide. Mutations in cyclic nucleotide-gated channel β 1 (CNGB1) cause approximately 4% of autosomal recessive RP. Gene augmentation therapy shows promise for treating inherited retinal degenerations; however, relevant animal models and biomarkers of progression in patients with RP are needed to assess therapeutic outcomes. Here, we evaluated RP patients with CNGB1 mutations for potential biomarkers of progression and compared human phenotypes with those of mouse and dog models of the disease...
November 20, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29201260/retinal-prosthesis-system-for-advanced-retinitis-pigmentosa-a-health-technology-assessment-update
#18
(no author information available yet)
Background: Retinitis pigmentosa is a group of inherited disorders characterized by the degeneration of the photoreceptors in the retina, resulting in progressive vision loss. The Argus II system is designed to restore partial functional vision in patients with profound vision loss from advanced retinitis pigmentosa. At present, it is the only treatment option approved by Health Canada for this patient population. In June 2016, Health Quality Ontario published a health technology assessment of the Argus II retinal prosthesis system for patients with advanced retinitis pigmentosa...
2017: Ontario Health Technology Assessment Series
https://www.readbyqxmd.com/read/29193763/identification-of-a-novel-rpgrip1-mutation-in-an-iranian-family-with-leber-congenital-amaurosis-by-exome-sequencing
#19
Saber Imani, Jingliang Cheng, Abdolkarim Mobasher-Jannat, Chunli Wei, Shangyi Fu, Lisha Yang, Khosrow Jadidi, Mohammad Hossein Khosravi, Saman Mohazzab-Torabi, Marzieh Dehghan Shasaltaneh, Yumei Li, Rui Chen, Junjiang Fu
Leber congenital amaurosis (LCA) is a heterogeneous, early-onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease-causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus...
November 29, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29188522/human-retinal-explant-culture-for-ex-vivo-validation-of-aav-gene-therapy
#20
Harry O Orlans, Thomas L Edwards, Samantha R De Silva, Maria I Patrício, Robert E MacLaren
Recombinant adeno-associated viral (AAV) vectors have been successfully employed as the mode of gene delivery in several clinical trials for the treatment of inherited retinal diseases to date. The design of such vectors is critical in determining cellular tropism and level of subsequent gene expression that may be achieved following viral delivery. Here we describe a system for living retinal tissue extraction, ex vivo culture, viral transduction and assessment of transgene expression that may be used to assess viral constructs for gene therapy in the human retina at a preclinical stage...
2018: Methods in Molecular Biology
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