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Macular degeneration pharmacogenetic

Mingxing Wu, Haibo Xiong, Yan Xu, Xiaojing Xiong, Hongmi Zou, Minming Zheng, Xiuqing Wang, Xiyuan Zhou
AIMS: The purpose of this study is to investigate whether gene polymorphisms of the vascular endothelial growth factor A (VEGF-A) and its receptor (VEGFR-2) have a pharmacogenetics effect on the anti-VEGF treatment for neovascular age-related macular degeneration (nAMD). METHODS: We carried out a meta-analysis focusing on the relationship between VEGF-related gene polymorphisms and treatment response of nAMD. RESULTS: For the single nucleotide polymorphisms (SNPs) within VEGF-A and VEGFR-2, anti-VEGF treatment was much more effective in patients with nAMD having rs833061 (CC vs TT:OR=2...
October 21, 2016: British Journal of Ophthalmology
Stephen G Schwartz, Milam A Brantley, Jaclyn L Kovach, Andrzej Grzybowski
Age-related macular degeneration (AMD) is a leading cause of irreversible visual loss and is primarily treated with nutritional supplementation as well as with anti-vascular endothelial growth factor (VEGF) agents for certain patients with neovascular disease. AMD is a complex disease with both genetic and environmental risk factors. In addition, treatment outcomes from nutritional supplementation and anti-VEGF agents vary considerably. Therefore, it is reasonable to suspect that there may be pharmacogenetic influences on these treatments...
2017: Current Pharmaceutical Design
Varun Chaudhary, Michael Brent, Wai-Ching Lam, Robert Devenyi, Joshua Teichman, Michael Mak, Joshua Barbosa, Harneel Kaur, Ronald Carter, Forough Farrokhyar
OBJECTIVE: To evaluate the pharmacogenetic relationship between CFH haplotypes and single nucleotide polymorphisms (SNPs) with response to ranibizumab treatment for neovascular age-related macular degeneration (nAMD). PATIENTS AND METHODS: This was a prospective cohort study involving 70 treatment-naive nAMD patients. Patients were genotyped for CFH haplotypes and SNPs in the C3, ARMS2, and mtDNA genes. Visual acuity and central macular thickness were assessed at baseline and during 6 monthly follow-up visits...
2016: Ophthalmologica. Journal International D'ophtalmologie
I Habibi, F Kort, I Sfar, A Chebil, R Bouraoui, T Ben Abdallah, Y Gorgi, L El Matri
Purpose. The aim of this pharmacogenetic study was to evaluate the impact of high-risk alleles in factor H, factor C3 and vascular endothelial growth factor (VEGF) on the response to intravitreal bevacizumab in patients with neovascular age-related macular degeneration (AMD) in a Tunisian population. Methods. Ninety patients with active neovascular AMD treated with intravitreal bevacizumab injections were enrolled in the study. Treatment response was evaluated by comparing BCVA at baseline and at 12 months...
April 2016: Klinische Monatsblätter Für Augenheilkunde
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
Flavio Mac Cord Medina, Augusto Alves Lopes da Motta, Walter Y Takahashi, Pedro Carlos Carricondo, Mario Martins Dos Santos Motta, Monica B Melo, Jose Paulo C Vasconcellos
PURPOSE: To compare the functional and morphological response to the initial intravitreal (IVT) injection of bevacizumab in exudative age-related macular degeneration (AMD) patients with the complement factor H (CFH) gene polymorphism T1277C in the Brazilian population. METHODS: Twenty-five unrelated patients with treatment-naive exudative AMD underwent an IVT injection of 1.25 mg bevacizumab at the initial presentation (D0) and were reexamined 7 days (D7) and 28 days (D28) later...
2015: Ophthalmic Research
Francesco Parmeggiani, Ciro Costagliola, Francesco Semeraro, Mario R Romano, Michele Rinaldi, Carla Enrica Gallenga, Maria Luisa Serino, Carlo Incorvaia, Sergio D'Angelo, Katia De Nadai, Roberto Dell'Omo, Andrea Russo, Donato Gemmati, Paolo Perri
Macular degenerations represent leading causes of central blindness or low vision in developed countries. Most of these severe visual disabilities are due to age-related macular degeneration (AMD) and pathologic myopia (PM), both of which are frequently complicated by subfoveal choroidal neovascularization (CNV). Photodynamic therapy with verteporfin (PDT-V) is still employed for CNV treatment in selected cases or in combined regimen. In Caucasian patients, the common polymorphism G185T of factor XIII-A gene (FXIII-A-G185T; rs5985) has been described as predictor of poor angiographic CNV responsiveness to PDT-V...
August 20, 2015: International Journal of Molecular Sciences
Blake M Hampton, Jaclyn L Kovach, Stephen G Schwartz
The Age-Related Eye Disease Study (AREDS) recommended treatment with antioxidants plus zinc in patients with intermediate or advanced age-related macular degeneration in order to reduce progression risks. Recent pharmacogenetic studies have reported differences in treatment outcomes with respect to variants in genes for CFH and ARMS2, although the treatment recommendations based on these differences are controversial. Different retrospective analyses of subsets of patients from the same AREDS trial have drawn different conclusions...
2015: Clinical Ophthalmology
Stephanie A Hagstrom, Gui-shuang Ying, Maureen G Maguire, Daniel F Martin, Jane Gibson, Andrew Lotery, Usha Chakravarthy
PURPOSE: A previously published study demonstrated a pharmacogenetic association between the minor alleles of 2 VEGFR2 single nucleotide polymorphisms (SNPs) and greater improvement in visual acuity (VA) to treatment with ranibizumab, an anti-vascular endothelial growth factor (VEGF) drug, in patients with neovascular age-related macular degeneration (AMD). We evaluated whether this association was replicated among patients who participated in the Comparison of AMD Treatments Trials (CATT) or the Alternative Treatments to Inhibit VEGF in Patients with Age-Related Choroidal Neovascularisation (IVAN) trial...
August 2015: Ophthalmology
Vaidehi S Dedania, Seanna Grob, Kang Zhang, Sophie J Bakri
PURPOSE: To determine whether there is an association between response to intravitreal anti-vascular endothelial growth factor agents and genotype in patients with neovascular age-related macular degeneration. METHODS: Analysis of the current literature evaluating pharmacogenetics of treatment response in patients with neovascular age-related macular degeneration. RESULTS: Studies have demonstrated associations between various genotypes and response to intravitreal anti-vascular endothelial growth factor agents...
March 2015: Retina
Jane Z Kuo, Tien Y Wong, Frank S Ong
No abstract text is available yet for this article.
April 1, 2013: Expert Review of Ophthalmology
Stephanie A Hagstrom, Gui-shuang Ying, Gayle J T Pauer, Gwen M Sturgill-Short, Jiayan Huang, Maureen G Maguire, Daniel F Martin
IMPORTANCE: Individual variation in response and duration of anti-vascular endothelial growth factor (VEGF) therapy is seen among patients with neovascular age-related macular degeneration. Identification of genetic markers that affect clinical response may result in optimization of anti-VEGF therapy. OBJECTIVE: To evaluate the pharmacogenetic relationship between genotypes of single-nucleotide polymorphisms (SNPs) in the VEGF signaling pathway and response to treatment with ranibizumab or bevacizumab for neovascular age-related macular degeneration...
May 2014: JAMA Ophthalmology
Frank S Ong, Jane Z Kuo, Wei-Chi Wu, Ching-Yu Cheng, Wendell-Lamar B Blackwell, Brian L Taylor, Wayne W Grody, Jerome I Rotter, Chi-Chun Lai, Tien Y Wong
Rapid progress in genomics and nanotechnology continue to advance our approach to patient care, from diagnosis and prognosis, to targeting and personalization of therapeutics. However, the clinical application of molecular diagnostics in ophthalmology has been limited even though there have been demonstrations of disease risk and pharmacogenetic associations. There is a high clinical need for therapeutic personalization and dosage optimization in ophthalmology and may be the focus of individualized medicine in this specialty...
2013: Journal of Personalized Medicine
(no author information available yet)
A study on the role of CFH, HTRA and IL-8 gene polymorphism in age-related macular degeneration (AMD) development has been conducted. At the first stage of the study genetic testing was done in 69 patients with exudative AMD and 370 random Moscow citizens without the disease. The goal of the second stage was to determine the influence of gene polymorphism on patient's response to endovitreal ranibizumab treatment. For that, visual acuity and foveal thickness were assessed before and after ranibizumab injections in 120 patients with wet AMD...
September 2013: Vestnik Oftalmologii
John W Kitchens, Nawal Kassem, William Wood, Thomas W Stone, Rick Isernhagen, Edward Wood, Brad A Hancock, Milan Radovich, Josh Waymire, Lang Li, Bryan P Schneider
PURPOSE: To ascertain whether single nucleotide polymorphisms (SNPs) in the Vascular Endothelial Growth factor (VEGFA), Complement Factor H (CFH), and LOC387715 genes could predict outcome to anti-VEGF therapy for patients with age related macular degeneration (AMD). METHODS: Patients with "wet" AMD were identified by chart review. Baseline optical coherence tomography (OCT) and visual acuity (VA) data, and at least 6 months of clinical follow up after 3 initial monthly injections of bevacizumab or ranibizumab were required for inclusion...
2013: Clinical Ophthalmology
Megan M McLaughlin, Marcella G Paglione, Jason Slakter, Michael Tolentino, Li Ye, Chun-Fang Xu, A Benjamin Suttle, Robert Y Kim
IMPORTANCE: Neovascular age-related macular degeneration (AMD) is managed with intravitreal anti-vascular endothelial growth factor therapy; however, the burden of care is high and alternate approaches could be beneficial. OBJECTIVE To identify an acceptable dose of oral pazopanib for investigation in AMD. DESIGN, SETTING, AND PARTICIPANTS: Fourteen-day, placebo-controlled, dose-rising study in 72 healthy participants and 28-day phase 2a open-label study in 15 patients with subfoveal choroidal neovascularization secondary to AMD at a clinical unit for healthy participants and outpatient for patients with AMD...
December 2013: JAMA Ophthalmology
Andrew J Lotery, Jane Gibson, Angela J Cree, Susan M Downes, Simon P Harding, Chris A Rogers, Barnaby C Reeves, Sarah Ennis, Usha Chakravarthy
PURPOSE: To determine if prespecified genetic polymorphisms influence responsiveness to vascular endothelial growth factor (VEGF) inhibition in neovascular age-related macular degeneration (nAMD). The objectives were to replicate 3 reported pharmacogenetic associations of response in nAMD and to test for novel associations. DESIGN: Cohort study, combining information about patients' genotypes with information from a randomized controlled trial about responsiveness to anti-VEGF therapy for nAMD...
December 2013: Ophthalmology
F Cruz-González, L Cabrillo Estévez, G López-Valverde, F Escudero-Domínguez, R González-Sarmiento
No abstract text is available yet for this article.
October 2013: Archivos de la Sociedad Española de Oftalmología
Justin Kanoff, Joan Miller
INTRODUCTION: Age-related macular degeneration is a major cause of blindness among people aged 50 and older in industrialized countries. Anti-VEGF therapy has been tremendously successful in the treatment of neovascular macular degeneration. Examining the pharmacogenetics of patients' response to the anti-VEGF molecules could allow for a tailored treatment strategy based on patients' underlying genetics rather than the "one-size fits all" approach currently used. METHODS: Review of the English literature for papers examining the pharmacogenetics of treatment response of neovascular macular degeneration to either ranibizumab or bevacizumab...
September 2013: Seminars in Ophthalmology
Carl C Awh, Anne-Marie Lane, Steven Hawken, Brent Zanke, Ivana K Kim
OBJECTIVE: The Age-Related Eye Disease Study (AREDS) demonstrated that antioxidant and zinc supplementation decreases progression to advanced age-related macular degeneration (AMD) in patients with moderate to severe disease. We evaluated the interaction of genetics and type of nutritional supplement on progression from moderate to advanced AMD. DESIGN: Genetic analysis of a randomized, prospective clinical trial. PARTICIPANTS: White patients with AREDS category 3 AMD in 1 eye and AREDS categories 1 through 4 AMD in the fellow eye enrolled in the AREDS with available peripheral blood-derived DNA (995)...
November 2013: Ophthalmology
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