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Gene therapy ophthalmology

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https://www.readbyqxmd.com/read/28809847/genome-wide-expression-datasets-of-anti-vegf-and-dexamethasone-treatment-of-angiogenesis-in-the-rat-cornea
#1
Anthony Mukwaya, Pierfrancesco Mirabelli, Anton Lennikov, Maria Xeroudaki, Mira Schaupper, Beatrice Peebo, Neil Lagali
Therapeutics against pathologic new blood vessel growth, particularly those targeting vascular endothelial growth factor (VEGF) are of enormous clinical interest. In the eye, where anti-VEGF agents are in widespread clinical use for treating retinal and corneal blindness, only partial or transient efficacy and resistance to anti-VEGF agents are among the major drawbacks. Conversely, corticosteroids have long been used in ophthalmology for their potency in suppressing inflammation and angiogenesis, but their broad biological activity can give rise to side effects such as glaucoma and cataract...
August 15, 2017: Scientific Data
https://www.readbyqxmd.com/read/28598868/pax6-aniridia-syndrome-clinics-genetics-and-therapeutics
#2
Hyun Taek Lim, Dae Hee Kim, Hyuna Kim
PURPOSE OF REVIEW: Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings. RECENT FINDINGS: Aside from the ocular features, a variety of associated systemic abnormalities, including hormonal, metabolic, gastrointestinal, genitourinary, and neurologic pathologies have been reported in children with aniridia...
September 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28573077/crispr-cas-genome-surgery-in-ophthalmology
#3
REVIEW
James E DiCarlo, Jesse D Sengillo, Sally Justus, Thiago Cabral, Stephen H Tsang, Vinit B Mahajan
Genetic disease affecting vision can significantly impact patient quality of life. Gene therapy seeks to slow the progression of these diseases by treating the underlying etiology at the level of the genome. Clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated systems (Cas) represent powerful tools for studying diseases through the creation of model organisms generated by targeted modification and by the correction of disease mutations for therapeutic purposes. CRISPR-Cas systems have been applied successfully to the visual sciences and study of ophthalmic disease - from the modification of zebrafish and mammalian models of eye development and disease, to the correction of pathogenic mutations in patient-derived stem cells...
May 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28525563/omics-biomarkers-in-ophthalmology
#4
REVIEW
Susette Lauwen, Eiko K de Jong, Dirk J Lefeber, Al den Hollander
"Omics" refers to high-throughput analyses of genes, proteins, or metabolites in a biological system, and is increasingly used for ophthalmic research. These system-based approaches can unravel disease-related processes and are valuable for biomarker discovery. Furthermore, potential therapeutic targets can be identified based on omics results, and targeted follow-up experiments can be designed to gain molecular understanding of the disease and to test new therapies. Here, we review the application of omics techniques in eye diseases, focusing on age-related macular degeneration (AMD), diabetic retinopathy (DR), retinal detachment (RD), myopia, glaucoma, Fuchs' corneal dystrophy (FCD), cataract, keratoconus, and dry eyes...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28456063/ocular-findings-in-adult-subjects-with-an-inactivating-mutation-in-gh-releasing-hormone-receptor-gene
#5
Augusto C N Faro, Virginia M Pereira-Gurgel, Roberto Salvatori, Viviane C Campos, Gustavo B Melo, Francielle T Oliveira, Alecia A Oliveira-Santos, Carla R P Oliveira, Francisco A Pereira, Ann Hellström, Luís A Oliveira-Neto, Eugenia H O Valença, Manuel H Aguiar-Oliveira
OBJECTIVE: Ocular function is fundamental for environmental adaptation and survival capacity. Growth factors are necessary for a mature eyeball, needed for adequate vision. However, the consequences of the deficiency of circulating growth hormone (GH) and its effector insulin-like growth factor I (IGF-I) on the physical aspects of the human eye are still debated. A model of untreated isolated GH deficiency (IGHD), with low but measurable serum GH, may clarify this issue. The aim of this study was to assess the ocular aspects of adult IGHD individuals who have never received GH therapy...
June 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28276057/the-mutation-p-d313y-is-associated-with-organ-manifestation-in-fabry-disease
#6
M du Moulin, A F Koehn, A Golsari, S Dulz, Y Atiskova, M Patten, J Münch, M Avanesov, K Ullrich, N Muschol
Fabry disease (FD) is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of the mutation p.D313Y is still under debate. Retrospective chart analysis of clinical (neurological, cardiac, renal, and ophthalmological), genetic, and biochemical (lyso-globotriaosylsphingosine, lyso-Gb3; enzyme activity) data was performed in all our patients carrying the p.D313Y mutation. Fourteen patients from 5 families (10 female, 4 male; age range 10-51) were included. Symptoms and organ manifestations compatible with FD could be identified in 10 patients...
March 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28257834/anxa1ac2-26-peptide-a-possible-therapeutic-approach-in-inflammatory-ocular-diseases
#7
Laila Toniol Cardin, Nathália Martins Sonehara, Kallyne Kioko Oliveira Mimura, Anemari Ramos Dinarte Dos Santos, Wilson Araújo da Silva, Lays Martin Sobral, Andréia Machado Leopoldino, Bianca Rodrigues da Cunha, Eloiza H Tajara, Sonia Maria Oliani, Flávia Cristina Rodrigues-Lisoni
The eye is immunologically privileged when inflammatory responses are suppressed. One component responsible for the suppression of inflammatory responses is the blood retinal barrier, which comprises the retinal pigment epithelium. The destruction of this barrier initiates inflammation, which can affect any part of the eye. Therefore, inflammatory response is controlled by the action of anti-inflammatory mediators, among these mediators, annexin A1 (ANXA1) protein acts as a modulator of inflammation. In this study we aimed to improve the knowledge of this area by investigating how a peptide of the ANXA1 protein (ANXA1Ac2-26) modulates the morphology, proliferation, migration and expression of genes and proteins in human retinal pigment epithelium cells (ARPE-19)...
May 30, 2017: Gene
https://www.readbyqxmd.com/read/28188379/a-novel-mutation-of-laminin-%C3%AE-2-lamb2-in-two-siblings-with-renal-failure
#8
Farah A Falix, Carlien A M Bennebroek, Bert van der Zwaag, Ruth Lapid-Gortzak, Sandrine Florquin, Michiel J S Oosterveld
This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings. The c.970T>C p.(Cys324Arg) mutation in the LAMB2 gene affects one of the eight highly conserved cysteine residues within the first EGF-like module of the laminin β2 protein. These residues form disulfide bonds in order to achieve a correct 3D structure of the protein. The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18 months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity...
April 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28104732/iatrogenic-cushing-s-syndrome-due-to-topical-ocular-glucocorticoid-treatment
#9
Daisuke Fukuhara, Toshihiko Takiura, Hiroshi Keino, Annabelle A Okada, Kunimasa Yan
Iatrogenic Cushing's syndrome (CS) is a severe adverse effect of systemic glucocorticoid (GC) therapy in children, but is extremely rare in the setting of topical ocular GC therapy. In this article, we report the case of a 9-year-old girl suffering from idiopathic uveitis who developed CS due to topical ocular GC treatment. She was referred to the ophthalmology department with a complaint of painful eyes, at which time she was diagnosed with bilateral iridocyclitis and started on a treatment of betamethasone sodium phosphate eye drops...
February 2017: Pediatrics
https://www.readbyqxmd.com/read/28104284/-fabry-disease
#10
F Stephan, R Haber
Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an X-linked recessive form of sphingolipidosis caused by total or partial deficiency of the lysosomal hydrolase, alpha-galactosidase A. From the youngest age, it results in a gradual ubiquitous build-up of glycosphingolipids that are not degraded by the missing enzyme. Cutaneous, neurological, nephrologic, cardiac, gastrointestinal, ophthalmological, respiratory, cochleovestibular and haematological involvement are responsible for increased mortality and significant impairment of quality of life in subjects affected by the disease...
February 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28095138/leber-congenital-amaurosis-from-darkness-to-light-an-ode-to-irene-maumenee
#11
Razek Georges Coussa, Irma Lopez Solache, Robert K Koenekoop
This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins' Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994-1995. Leber congenital amaurosis (LCA) has almost come full circle, from a profound and molecularly uncharacterized form of congenital retinal blindness to one in which a large number of causative genes and disease pathways are known, and the world's first human retinal disease to be treated by gene therapy. Dr. Maumenee's insights, efforts, and leadership have contributed significantly to this remarkable scientific journey...
January 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28072696/cerebroretinal-microangiopathy-with-calcifications-and-cysts-a-case-report
#12
Wenrui Xu, Jiuliang Zhao, Yicheng Zhu, Weihong Zhang
RATIONAL: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvement, focusing on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27493794/an-update-on-the-ophthalmologic-features-in-the-phakomatoses
#13
REVIEW
Solmaz Abdolrahimzadeh, Andrea Maria Plateroti, Santi Maria Recupero, Alessandro Lambiase
Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant transformation. The alteration of tumor suppressor genes seems to be at the basis of their pathophysiogenetic mechanism. Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in Von Hippel-Lindau disease are the principal ophthalmic hamartomatous manifestations...
2016: Journal of Ophthalmology
https://www.readbyqxmd.com/read/27477178/trichotillomania-bizzare-patern-of-hair-loss-at-11-year-old-girl
#14
Jana Zímová, Pavlína Zímová
Trichotillomania (TTM) is defined by the Diagnostics and Statistic Manual of Mental Disorders, 4th edition (DMS-IV) as hair loss from a patient`s repetitive self-pulling of hair. The disorder is included under anxiety disorders because it shares some obsessive-compulsive features. Patients have the tendency towards feelings of unattractiveness, body dissatisfaction, and low self-esteem (1,2). It is a major psychiatric problem, but many patients with this disorder first present to a dermatologist. An 11-year-old girl came to our department with a 2-month history of diffuse hair loss on the frontoparietal and parietotemporal area (Figure 1)...
June 2016: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/27149134/adverse-reaction-to-cetuximab-an-epidermal-growth-factor-receptor-inhibitor
#15
Daška Štulhofer Buzina, Ivana Martinac, Daniela Ledić Drvar, Romana Čeović, Ivan Bilić, Branka Marinović
Dear Editor, Inhibition of the epidermal growth factor receptor (EGFR) is a new strategy in treatment of a variety of solid tumors, such as colorectal carcinoma, non-small cell lung cancer, squamous cell carcinoma of the head and neck, and pancreatic cancer (1). Cetuximab is a chimeric human-murine monoclonal antibody against EGFR. Cutaneous side effects are the most common adverse reactions occurring during epidermal growth factor receptor inhibitors (EGFRI) therapy. Papulopustular rash (acne like rash) develop with 80-86% patients receiving cetuximab, while xerosis, eczema, fissures, teleangiectasiae, hyperpigmentations, and nail and hair changes occur less frequently (2)...
April 2016: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/27010695/omics-in-ophthalmology-advances-in-genomics-and-precision-medicine-for-leber-congenital-amaurosis-and-age-related-macular-degeneration
#16
Anneke I den Hollander
The genomic revolution has had a huge impact on our understanding of the genetic defects and disease mechanisms underlying ophthalmic diseases. Two examples are discussed here. The first is Leber congenital amaurosis (LCA), a severe inherited retinal dystrophy leading to severe vision loss in children, and the second is age-related macular degeneration (AMD), the most common cause of vision loss in the elderly. Twenty years ago, the genetic causes of these diseases were unknown. Currently, more than 20 LCA genes have been identified, and genetic testing can now successfully identify the genetic defects in at least 75% of all LCA cases...
March 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/26910290/mitochondrial-replacement-techniques-implications-for-the-clinical-community
#17
Marni J Falk, Alan Decherney, Jeffrey P Kahn
Mitochondrial DNA (mtDNA) diseases may be the poster child for highly targeted, "personalized" medicine. These heterogeneous disorders, although rare individually, have well-defined genetic causes — more than 400 known pathogenic mutations or deletions in the 16,569-base-pair mitochondrial..
March 24, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/26892229/efficacy-and-safety-of-raav2-nd4-treatment-for-leber-s-hereditary-optic-neuropathy
#18
Xing Wan, Han Pei, Min-jian Zhao, Shuo Yang, Wei-kun Hu, Heng He, Si-qi Ma, Ge Zhang, Xiao-yan Dong, Chen Chen, Dao-wen Wang, Bin Li
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited disease leading to blindness. A mitochondrial DNA point mutation at the 11778 nucleotide site of the NADH dehydrogenase subunit 4 (ND4) gene is the most common cause. The aim of this study was to evaluate the efficacy and safety of a recombinant adeno-associated virus 2 (AAV2) carrying ND4 (rAAV2-ND4) in LHON patients carrying the G11778A mutation. Nine patients were administered rAAV2-ND4 by intravitreal injection to one eye and then followed for 9 months...
February 19, 2016: Scientific Reports
https://www.readbyqxmd.com/read/26780119/photodynamic-therapy-in-vegf-inhibition-non-responders-pharmacogenetic-study-in-age-related-macular-degeneration-assessed-with-swept-source-optical-coherence-tomography
#19
Slawomir J Teper, Anna Nowinska, Jaroslaw Pilat, Edward Wylegala
BACKGROUND: Treatment of neovascular age-related macular degeneration (nAMD) remains a major challenge in ophthalmology. It is essential to determine which of VEGF inhibition non-responders can benefit from photodynamic therapy (PDT). As AMD is strongly related to gene polymorphisms, genetic factors can modify efficacy of treatment. Swept-source optical coherence tomography (SS-OCT) gives exceptional insight into the retina and choroid. SS-OCT usefulness needs to be evaluated in nAMD patients...
March 2016: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/26558262/ocular-manifestations-and-therapeutic-options-in-patients-with-familial-amyloid-polyneuropathy-a-systematic-review
#20
REVIEW
A C Martins, A M Rosa, E Costa, C Tavares, M J Quadrado, J N Murta
PURPOSE: This paper aims to review the morphological and functional characteristics of patients affected by familial amyloid polyneuropathy (FAP), with greater focus on type I and its progression after liver transplantation. We also analyse therapeutic options for the ophthalmic manifestations. METHODS: The literature from 2002 through 2015 was reviewed, with a total of 45 articles studied, using the key terms related to amyloidosis and its therapeutic approaches...
2015: BioMed Research International
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