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Gene therapy ophthalmology

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https://www.readbyqxmd.com/read/29579408/analysis-of-the-association-between-cfh-y402h-polymorphism-and-response-to-intravitreal-ranibizumab-in-patients-with-neovascular-age-related-macular-degeneration-namd
#1
Nur Afiqah Mohamad, Vasudevan Ramachandran, Patimah Ismail, Hazlita Mohd Isa, Yoke Mun Chan, Nor Fariza Ngah, Norshakimah Md Bakri, Siew Mooi Ching, Fan Kee Hoo, Wan Aliaa Wan Sulaiman, Liyana Najwa Inche Mat, Mohd Hazmi Mohamed
Pharmacogenetic studies indicate that a variable response to anti-vascular endothelial growth factor (VEGF) therapy in patients with neovascular form of AMD (nAMD) may be due to polymorphisms in the complement factor H gene (CFH). This study is the first to investigate the association between CFH Y402H polymorphism and the response to ranibizumab therapy in Malaysian patients with nAMD. We included 134 patients with nAMD, examined between September 2014 and February 2016. The diagnosis of nAMD was confirmed by ophthalmologic examination, before ranibizumab therapy was started...
March 10, 2018: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/29538182/gene-therapy-in-optic-nerve-disease
#2
Adam DeBusk, Mark L Moster
PURPOSE OF REVIEW: Highlight some of the recent advances in gene therapy and gene modification for optic nerve disease to promote axon regeneration, neuroprotection, and increased visual functioning. RECENT FINDINGS: Visual loss secondary to optic nerve damage occurs in numerous ophthalmologic and neurologic conditions. Damaged retinal ganglion cells (RGCs) do not regenerate once they undergo apoptosis after injury. Gene therapy has been studied to replace gene mutations in disorders affecting the optic nerve as well as to alter genes responsible for suppressing or activating pathways of optic nerve growth and regeneration...
March 13, 2018: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/29534264/-the-usher-syndrome-a-human-ciliopathy
#3
Uwe Wolfrum, Kerstin Nagel-Wolfrum
The human Usher syndrome (USH) is a complex, rare disease manifesting in its most common form of inherited deaf-blindness. Due to the heterogeneous manifestation of the clinical symptoms, three clinical types (USH1-3) are distinguished according to the severity of the disease pattern. For a correct diagnosis, in addition to the auditory tests in early newborn screening, ophthalmological examinations and molecular genetic analysis are important. Ten known USH genes encode proteins, which are from heterogeneous protein families, interact in functional protein networks...
March 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29518985/the-repertoire-of-adenovirus-in-human-disease-the-innocuous-to-the-deadly
#4
REVIEW
Subrat Khanal, Pranita Ghimire, Amit S Dhamoon
Adenoviridae is a family of double-stranded DNA viruses that are a significant cause of upper respiratory tract infections in children and adults. Less commonly, the adenovirus family can cause a variety of gastrointestinal, ophthalmologic, genitourinary, and neurologic diseases. Most adenovirus infections are self-limited in the immunocompetent host and are treated with supportive measures. Fatal infections can occur in immunocompromised patients and less frequently in the healthy. Adenoviral vectors are being studied for novel biomedical applications including gene therapy and immunization...
March 7, 2018: Biomedicines
https://www.readbyqxmd.com/read/29304271/blau-jabs-syndrome-in-a-tertiary-ophthalmologic-center
#5
Heloisa Nascimento, Jacqueline M Sousa, Délia González Fernández, Gustavo H A Salomão, Elcio H Sato, Cristina Muccioli, Rubens Belfort
In a prospective case series of patients with Blau-Jabs syndrome (BJS) conducted in the Ophthalmology Department/Federal University of Sao Paulo, seven patients with clinical and ophthalmologic manifestations of the disease and a positive genetic test result for the presence of a mutation in the CARD15/NOD2 gene were followed for a minimal period of 1 year. All patients had uveitis, five had nummular corneal subepithelial opacities, and four had multifocal choroiditis. Oral prednisolone was administered to all patients; inflammation was controlled in six patients with at least one immunosuppressive drug...
January 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29224958/renal-involvement-in-neuropathy-ataxia-retinitis-pigmentosa-narp-syndrome-a-case-report
#6
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/29188523/visual-acuity-testing-before-and-after-intravitreal-injection-of-raav2-nd4-in-patients
#7
Bin Li, Chenmian Wu
Gene therapy in ophthalmology has developed rapidly, and there has been a breakthrough in the treatment of Leber's hereditary optic neuropathy. After receiving an intravitreal injection of rAAV2-ND4, patients followed up over a certain time period showed a definite increase in visual acuity. Visual acuity testing is critical for assessing the efficacy of rAAV2-ND4 intravitreal injection.
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29188071/postoperative-tropheryma-whipplei-endophthalmitis-a-case-report-highlighting-the-additive-value-of-molecular-testing
#8
Julia Dick, Patrizia Krauß, Jost Hillenkamp, Britta Kohlmorgen, Christoph Schoen
Introduction. Tropheryma whipplei is the causative agent of Whipple's disease. Gastrointestinal and lymphatic tissues are affected in the majority of cases, resulting in diarrhoea, malabsorption and fever. Here, we report a rare case of ocular manifestation in a patient lacking the typical Whipple symptoms. Case presentation. A 74-year-old Caucasian female presented with blurred vision in the right eye over a period of 1-2 months, accompanied by stinging pain and conjunctival hyperaemia for the last 2 days...
October 2017: JMM Case Reports
https://www.readbyqxmd.com/read/29053603/clinical-and-genetic-evaluation-of-a-cohort-of-pediatric-patients-with-severe-inherited-retinal-dystrophies
#9
Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli
We performed a clinical and genetic characterization of a pediatric cohort of patients with inherited retinal dystrophy (IRD) to identify the most suitable cases for gene therapy. The cohort comprised 43 patients, aged between 2 and 18 years, with severe isolated IRD at the time of presentation. The ophthalmological characterization also included assessment of the photoreceptor layer integrity in the macular region (ellipsoid zone (EZ) band). In parallel, we carried out a targeted, next-generation sequencing (NGS)-based analysis using a panel that covers over 150 genes with either an established or a candidate role in IRD pathogenesis...
October 20, 2017: Genes
https://www.readbyqxmd.com/read/29033008/safety-and-long-term-efficacy-of-aav4-gene-therapy-in-patients-with-rpe65-leber-congenital-amaurosis
#10
Guylène Le Meur, Pierre Lebranchu, Fanny Billaud, Oumeya Adjali, Sébastien Schmitt, Stéphane Bézieau, Yann Péréon, Romain Valabregue, Catherine Ivan, Christophe Darmon, Philippe Moullier, Fabienne Rolling, Michel Weber
The aim of this study was the evaluation of the safety and efficacy of unilateral subretinal injection of the adeno-associated vector (AAV) serotypes 2 and 4 (AAV2/4) RPE65-RPE65 vector in patients with Leber congenital amaurosis (LCA) associated with RPE65 gene deficiency. We evaluated ocular and general tolerance and visual function up to 1 year after vector administration in the most severely affected eye in nine patients with retinal degeneration associated with mutations in the RPE65 gene. Patients received either low (1...
January 3, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28859202/phenotype-characteristics-of-patients-with-age-related-macular-degeneration-carrying-a-rare-variant-in-the-complement-factor-h-gene
#11
Eveline Kersten, Maartje J Geerlings, Anneke I den Hollander, Eiko K de Jong, Sascha Fauser, Tunde Peto, Carel B Hoyng
Importance: Rare variants in the complement factor H (CFH) gene and their association with age-related macular degeneration (AMD) have been described. However, there is limited literature on the phenotypes accompanying these rare variants. Phenotypical characteristics could help ophthalmologists select patients for additional genetic testing. Objective: To describe the phenotypical characteristics of patients with AMD carrying a rare variant in the CFH gene. Design, Setting, and Participants: In this cross-sectional study, we searched the genetic database of the department of ophthalmology at the Radboudumc (tertiary ophthalmologic referral center) and the European Genetic Database for patients with AMD with a rare genetic variant in the CFH gene...
October 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28809847/genome-wide-expression-datasets-of-anti-vegf-and-dexamethasone-treatment-of-angiogenesis-in-the-rat-cornea
#12
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
#13
REVIEW
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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