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Macular degeneration pharmacogenetic

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
Janan Arslan, Paul N Baird
Nonresponsiveness to age-related macular degeneration (AMD) treatments has become a growing concern in ophthalmology. Disparity among publications that have assessed pharmacogenetic (PGx) connections between AMD disease genes and treatments has delayed the implementation of PGx testing in AMD. We assessed all AMD PGx publications to identify the degree of agreement for publications within similar ethnic cohorts and worldwide, and the causes for differences in study outcomes. There are no accepted genotype-phenotype correlations, either within similar ethnic cohorts or worldwide...
March 26, 2018: Pharmacogenomics
Un Chul Park, Joo Young Shin, Hum Chung, Hyeong Gon Yu
BACKGROUND: To investigate whether genetic risk variants for age-related macular degeneration (AMD) are associated with response to intravitreal anti-vascular endothelial growth factor (VEGF) in polypoidal choroidal vasculopathy (PCV) patients. METHODS: This prospective cohort study included 95 treatment-naïve patients that underwent anti-VEGF treatment for PCV for 12 months. Patients were genotyped for 10 single nucleotide polymorphisms in eight AMD-relevant genes...
December 7, 2017: BMC Ophthalmology
Raffaella Cascella, Claudia Strafella, Valerio Caputo, Valeria Errichiello, Stefania Zampatti, Filippo Milano, Saverio Potenza, Silvestro Mauriello, Giuseppe Novelli, Federico Ricci, Andrea Cusumano, Emiliano Giardina
The review essentially describes genetic and non-genetic variables contributing to the onset and progression of exudative Age-related Macular Degeneration (AMD) in Italian population. In particular, AMD susceptibility within Italian population is contributed to by genetic variants, accounting for 23% of disease and non-genetic variants, accounting for 10% of AMD. Our data highlighted prominent differences concerning genetic and non-genetic contributors to AMD in our cohort with respect to worldwide populations...
March 2018: Progress in Retinal and Eye Research
Moeen Riaz, Paul N Baird
No abstract text is available yet for this article.
April 2017: Neural Regeneration Research
Elvan Alper Sengul, Ozgur Artunay, Rifat Rasier, Alev Kockar, Ceyda Afacan, Veysel Sabri Hancer, Erdal Yuzbasioglu
PURPOSE: This study aims to evaluate the role of complement factor H (CFH) in response to intravitreal ranibizumab (IVR) treatment, which is administered to patients with neovascular age-related macular degeneration (nAMD). METHODS: In this retrospective study, 90 nAMD patients' 90 eyes were evaluated. IVR was injected once a month for three consecutive months, and then, patients were followed up for five years by using pro re nata method. RESULTS: Average visual acuity (BCVA) values in TT group for the third, fourth and fifth years were found to be significantly higher than those in TC and CC groups, while average BCVA values in TC group were significantly higher than those in CC group (all p = ...
May 4, 2017: Ocular Immunology and Inflammation
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...
July 2017: 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
M V Budzinskaia, T V Pogoda, E V Generozov, E A Chikun, I V Gurova, I V Shchegoleva, M V Sizova
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
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