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Inherited retinal diseases

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https://www.readbyqxmd.com/read/29141905/adaptive-optics-imaging-of-inherited-retinal-diseases
#1
REVIEW
Michalis Georgiou, Angelos Kalitzeos, Emily J Patterson, Alfredo Dubra, Joseph Carroll, Michel Michaelides
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases. An increasing number of natural history studies and ongoing/planned interventional clinical trials exploit AO ophthalmoscopy both for participant selection, stratification and monitoring treatment safety and efficacy. In this review, we briefly discuss the evolution of AO ophthalmoscopy, recent developments and its application to a broad range of inherited retinal diseases, including Stargardt disease, retinitis pigmentosa and achromatopsia...
November 15, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29140735/factors-associated-with-visual-acuity-in-patients-with-cystoid-macular-oedema-and-retinitis-pigmentosa
#2
Gerald Liew, Anthony T Moore, Patrick D Bradley, Andrew R Webster, Michel Michaelides
PURPOSE: Retinitis pigmentosa is the most common inherited retinal dystrophy. The factors associated with visual acuity in patients with other retinal diseases are well known, but are poorly understood in patients with retinitis pigmentosa. This knowledge is useful for prognosis and to support secondary endpoints in clinical trials. METHODS: We conducted a cross-sectional study of consecutive patients recruited from the inherited retinal disease service from January 2012 to December 2012...
November 15, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/29131863/long-term-retinal-cone-rescue-using-a-capsid-mutant-aav8-vector-in-a-mouse-model-of-cnga3-achromatopsia
#3
Xufeng Dai, Ying He, Hua Zhang, Yangyang Zhang, Yan Liu, Muran Wang, Hao Chen, Ji-Jing Pang
Adeno-associated virus (AAV) vectors are important gene delivery tools for the treatment of many recessively inherited retinal diseases. For example, a wild-type (WT) AAV5 vector can deliver a full-length Cnga3 (cyclic nucleotide-gated channel alpha-3) cDNA to target cells of the cone photoreceptor function loss 5 (cpfl5) mouse, a spontaneous animal model of achromatopsia with a Cnga3 mutation. Gene therapy restores cone-mediated function and blocks cone degeneration in the mice. However, since transgene expression delivered by an AAV vector shows relatively short-term effectiveness, this cannot be regarded as a very successful therapy...
2017: PloS One
https://www.readbyqxmd.com/read/29130158/crispr-in-the-retina-evaluation-of-future-potential
#4
Galaxy Y Cho, Sally Justus, Jesse D Sengillo, Stephen H Tsang
Clustered regularly interspaced short palindromic repeats (CRISPR) has been gaining widespread attention for its ability for targeted genome surgery. In treating inherited retinal degenerations, gene therapies have had varied results; the ones effective in restoring eye sight are limited by transiency in its effect. Genome surgery, however, is a solution that could potentially provide the eye with permanent healthy cells. As retinal degenerations are irreversible and the retina has little regenerative potential, permanent healthy cells are vital for vision...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29120066/a-novel-nonsense-variant-in-reep6-is-involved-in-a-sporadic-rod-cone-dystrophy-case
#5
C Méjécase, S Mohand-Saïd, S El Shamieh, A Antonio, C Condroyer, S Blanchard, M Letexier, J-P Saraiva, J-A Sahel, I Audo, C Zeitz
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to identify the underlying gene defect leading to severe RCD in a 60-year-old woman. The patient's DNA was investigated by targeted next generation sequencing followed by whole exome sequencing...
November 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29098082/inherited-retinal-degeneration-genetics-disease-characterization-and-outcome-measures
#6
EDITORIAL
Naheed W Khan, Benedetto Falsini, Mineo Kondo, Anthony G Robson
No abstract text is available yet for this article.
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/29097191/molecular-genetics-and-emerging-therapies-for-retinitis-pigmentosa-basic-research-and-clinical-perspectives
#7
REVIEW
Marina França Dias, Kwangsic Joo, Jessica A Kemp, Silvia Ligório Fialho, Armando da Silva Cunha, Se Joon Woo, Young Jik Kwon
Retinitis Pigmentosa (RP) is a hereditary retinopathy that affects about 2.5 million people worldwide. It is characterized with progressive loss of rods and cones and causes severe visual dysfunction and eventual blindness in bilateral eyes. In addition to more than 3000 genetic mutations from about 70 genes, a wide genetic overlap with other types of retinal dystrophies has been reported with RP. This diversity of genetic pathophysiology makes treatment extremely challenging. Although therapeutic attempts have been made using various pharmacologic agents (neurotrophic factors, antioxidants, and anti-apoptotic agents), most are not targeted to the fundamental cause of RP, and their clinical efficacy has not been clearly proven...
October 31, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29074561/assessment-of-the-incorporation-of-cnv-surveillance-into-gene-panel-next-generation-sequencing-testing-for-inherited-retinal-diseases
#8
Jamie M Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev Bhaskar, Panagiotis I Sergouniotis, Rachel L Taylor, Keren J Carss, Lucy F L Raymond, Michel Michaelides, Simon C Ramsden, Andrew R Webster, Graeme C M Black
BACKGROUND: Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these techniques have often failed to capture the complete spectrum of genomic variation causing IRD, including CNVs. This study assessed the applicability of introducing CNV surveillance into first-tier diagnostic gene panel NGS services for IRD. METHODS: Three read-depth algorithms were applied to gene panel NGS data sets for 550 referred individuals, and informatics strategies used for quality assurance and CNV filtering...
October 26, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29065723/ciliary-neurotrophic-factor-cntf-delivery-to-retina-an-overview-of-current-research-advancements
#9
Maryam Ghasemi, Effat Alizadeh, Khatereh Saei Arezoumand, Behzad Fallahi Motlagh, Nosratollah Zarghami
The intraocular administration of the ciliary neurotrophic factor (CNTF) has been found to attenuate the photoreceptor degeneration and preserve retinal functions in the animal research models of the inherited or induced retinal disease. Studies with the aim of CNTF transfer to the posterior segment inside the eye have been directed to determine the best method for its administration. An ideal delivery method would overcome the eye drug elimination mechanisms or barriers and provide the sustained release of the CNTF into retina in the safest fashion with the minimum harm to the quality of life...
October 24, 2017: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/29062221/the-importance-of-genetic-testing-as-demonstrated-by-two-cases-of-cacna1f-associated-retinal-generation-misdiagnosed-as-lca
#10
Clara J Men, Kinga M Bujakowska, Jason Comander, Emily Place, Emma C Bedoukian, Xiaosong Zhu, Bart P Leroy, Anne B Fulton, Eric A Pierce
PURPOSE: To describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the CACNA1F gene. METHODS: The patients underwent a detailed ophthalmological evaluation and full-field electroretinography (ERG). Selective targeted capture and whole-exome next-generation sequencing (NGS) were used to find the disease-causing mutations. RESULTS: Patient 1 presented at age 3 months with nystagmus, normal visual attention, and a normal fundus exam...
2017: Molecular Vision
https://www.readbyqxmd.com/read/29061346/genotype-functional-phenotype-correlations-in-photoreceptor-guanylate-cyclase-gc-e-encoded-by-gucy2d
#11
REVIEW
Dror Sharon, Hanna Wimberg, Yael Kinarty, Karl-Wilhelm Koch
The GUCY2D gene encodes for the photoreceptor guanylate cyclase GC-E that synthesizes the intracellular messenger of photoreceptor excitation cGMP and is regulated by intracellular Ca(2+)-sensor proteins named guanylate cyclase-activating proteins (GCAPs). Over 140 disease-causing mutations have been described so far in GUCY2D, 88% of which cause autosomal recessive Leber congenital amaurosis (LCA) while heterozygous missense mutations cause autosomal dominant cone-rod degeneration (adCRD). Mutations in GUCY2D are one of the major causes of all LCA cases and are the major cause of adCRD...
October 20, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29057663/gene-therapy-for-inherited-retinal-and-optic-nerve-degenerations
#12
Nicholas A Moore, Nuria Morral, Thomas A Ciulla, Peter Bracha
The eye is a target for investigational gene therapy due to the monogenic nature of many inherited retinal and optic nerve degenerations (IRD), its accessibility, tight blood-ocular barrier, the ability to non-invasively monitor for functional and anatomic outcomes, as well as its relative immune privileged state.Vectors currently used in IRD clinical trials include adeno-associated virus (AAV), small single-stranded DNA viruses, and lentivirus, RNA viruses of the retrovirus family. Both can transduce non-dividing cells, but AAV are non-integrating, while lentivirus integrate into the host cell genome, and have a larger transgene capacity...
October 23, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29053642/allelic-expression-imbalance-in-the-human-retinal-transcriptome-and-potential-impact-on-inherited-retinal-diseases
#13
Pablo Llavona, Michele Pinelli, Margherita Mutarelli, Veer Singh Marwah, Simone Schimpf-Linzenbold, Sebastian Thaler, Efdal Yoeruek, Jan Vetter, Susanne Kohl, Bernd Wissinger
Inherited retinal diseases (IRDs) are often associated with variable clinical expressivity (VE) and incomplete penetrance (IP). Underlying mechanisms may include environmental, epigenetic, and genetic factors. Cis-acting expression quantitative trait loci (cis-eQTLs) can be implicated in the regulation of genes by favoring or hampering the expression of one allele over the other. Thus, the presence of such loci elicits allelic expression imbalance (AEI) that can be traced by massive parallel sequencing techniques...
October 20, 2017: Genes
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#14
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29048427/hdac6-inhibition-by-tubastatin-a-is-protective-against-oxidative-stress-in-a-photoreceptor-cell-line-and-restores-visual-function-in-a-zebrafish-model-of-inherited-blindness
#15
Janina Leyk, Conor Daly, Ulrike Janssen-Bienhold, Breandán N Kennedy, Christiane Richter-Landsberg
Retinal diseases, such as hereditary retinitis pigmentosa and age-related macular degeneration, are characterized by the progressive loss of photoreceptors. Histone deacetylase 6 (HDAC6) is considered as a stress surveillance factor and a potential target for neuroprotection and regeneration. Overexpression of HDAC6 has been connected to neurodegenerative disorders, and its suppression may provide protection. Here we show that HDAC6 is constitutively present in the mouse retina, and in the cone-like mouse cell line 661W...
August 31, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29042326/the-molecular-and-cellular-basis-of-rhodopsin-retinitis-pigmentosa-reveals-potential-strategies-for-therapy
#16
REVIEW
Dimitra Athanasiou, Monica Aguila, James Bellingham, Wenwen Li, Caroline McCulley, Philip J Reeves, Michael E Cheetham
Inherited mutations in the rod visual pigment, rhodopsin, cause the degenerative blinding condition, retinitis pigmentosa (RP). Over 150 different mutations in rhodopsin have been identified and, collectively, they are the most common cause of autosomal dominant RP (adRP). Mutations in rhodopsin are also associated with dominant congenital stationary night blindness (adCSNB) and, less frequently, recessive RP (arRP). Recessive RP is usually associated with loss of rhodopsin function, whereas the dominant conditions are a consequence of gain of function and/or dominant negative activity...
October 16, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29036441/the-role-of-the-er-stress-response-protein-perk-in-rhodopsin-retinitis-pigmentosa
#17
Dimitra Athanasiou, Monica Aguila, James Bellingham, Naheed Kanuga, Peter Adamson, Michael E Cheetham
Mutations in rhodopsin, the light sensitive protein of rod cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness caused by the dysfunction and death of photoreceptor cells. The P23H mutation, the most frequent single cause of RP in the USA, causes rhodopsin misfolding and induction of the unfolded protein response (UPR), an adaptive ER stress response and signalling network that aims to enhance the folding and degradation of misfolded proteins to restore proteostasis...
September 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29018763/ocular-manifestations-of-sickle-cell-disease-and-genetic-susceptibility-for-refractive-errors
#18
Palak Shukla, Henu Verma, Santosh Patel, P K Patra, L V K S Bhaskar
PURPOSE: Sickle cell disease (SCD) is the most common and serious form of an inherited blood disorder that lead to higher risk of early mortality. SCD patients are at high risk for developing multiorgan acute and chronic complications linked with significant morbidity and mortality. Some of the ophthalmological complications of SCD include retinal changes, refractive errors, vitreous hemorrhage, and abnormalities of the cornea. MATERIALS AND METHODS: The present study includes 96 SCD patients...
April 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/28988713/otx2-genetically-modified-retinal-pigment-epithelial-cells-rescue-photoreceptors-after-transplantation
#19
Christo Kole, Laurence Klipfel, Ying Yang, Vanessa Ferracane, Frederic Blond, Sacha Reichman, Géraldine Millet-Puel, Emmanuelle Clérin, Najate Aït-Ali, Delphine Pagan, Hawa Camara, Marie-Noëlle Delyfer, Emeline F Nandrot, Jose-Alain Sahel, Olivier Goureau, Thierry Léveillard
Inherited retinal degenerations are blinding diseases characterized by the loss of photoreceptors. Their extreme genetic heterogeneity complicates treatment by gene therapy. This has motivated broader strategies for transplantation of healthy retinal pigmented epithelium to protect photoreceptors independently of the gene causing the disease. The limited clinical benefit for visual function reported up to now is mainly due to dedifferentiation of the transplanted cells that undergo an epithelial-mesenchymal transition...
September 8, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28987166/neurodegeneration-with-brain-iron-accumulation
#20
Sarah Wiethoff, Henry Houlden
Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous group of inherited rare clinical and genetic entities. Clinical core symptoms comprise a combination of early-onset dystonia, pyramidal and extrapyramidal signs with ataxia, cognitive decline, behavioral abnormalities, and retinal and axonal neuropathy variably accompanying these core features. Increased nonphysiologic, nonaging-associated brain iron, most pronounced in the basal ganglia, is often termed the unifying characteristic of these clinically variable disorders, though occurrence and extent can be fluctuating or even absent...
2017: Handbook of Clinical Neurology
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