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How Do Patients Respond to Genetic Testing for Age-related Macular Degeneration?
McCarty CA, Fuchs MJ, Lamb A, Conway P. McCarty CA, et al. Optom Vis Sci. 2018 Mar;95(3):166-170. doi: 10.1097/OPX.0000000000001188. Optom Vis Sci. 2018. PMID: 29424826 Free PMC article.
SIGNIFICANCE: The American Academy of Ophthalmology currently recommends against routine genetic testing for complex diseases such as age-related macular degeneration (AMD). The results of this study demonstrate that patients are v …
SIGNIFICANCE: The American Academy of Ophthalmology currently recommends against routine genetic testing for complex diseases …
Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration.
Balikova I, Postelmans L, Pasteels B, Coquelet P, Catherine J, Efendic A, Hosoda Y, Miyake M, Yamashiro K; ANGEL study group members, Thienpont B, Lambrechts D. Balikova I, et al. BMJ Open Ophthalmol. 2019 Dec 17;4(1):e000273. doi: 10.1136/bmjophth-2019-000273. eCollection 2019. BMJ Open Ophthalmol. 2019. PMID: 31909188 Free PMC article.
OBJECTIVE: Age-related macular degeneration (ARMD) is a leading cause of visual impairment. ...Of six SNPs tested for replication, one was significant although not after multiple testing correction. CONCLUSION: Identifying genetic variant …
OBJECTIVE: Age-related macular degeneration (ARMD) is a leading cause of visual impairment. ...Of six SNPs teste …
Suggestive association between PLA2G12A single nucleotide polymorphism rs2285714 and response to anti-vascular endothelial growth factor therapy in patients with exudative age-related macular degeneration.
Wang VM, Rosen RB, Meyerle CB, Kurup SK, Ardeljan D, Agron E, Tai K, Pomykala M, Chew EY, Chan CC, Tuo J. Wang VM, et al. Mol Vis. 2012;18:2578-85. Epub 2012 Oct 20. Mol Vis. 2012. PMID: 23112570 Free PMC article.
PURPOSE: The use of anti-vascular endothelial growth factor (anti-VEGF) therapy, with drugs such as ranibizumab and bevacizumab, to treat neovascular age-related macular degeneration (nAMD) produces an effective but widely variable response. ...Pati
PURPOSE: The use of anti-vascular endothelial growth factor (anti-VEGF) therapy, with drugs such as ranibizumab and bevacizumab, to treat ne …
[Association between Y402H, E318D and R102G polymorphisms of complement proteins genes and the response to intravitreal anti-VEGF treatment in patients with neovascular age-related macular degeneration].
Kubicka-Trząska A, Karska-Basta I, Kobylarz J, Dziedzina S, Sanak M, Romanowska-Dixon B. Kubicka-Trząska A, et al. Klin Oczna. 2016;118(2):114-21. Klin Oczna. 2016. PMID: 29912491 Polish.
The genotype CC of Y402H (CFH) polymorphism was more frequent in patients with age-related macular degeneration as compared to controls [OR=3.09 (1.28-7.49); p=0.0069]. At the last follow-up, patients with age-related mac
The genotype CC of Y402H (CFH) polymorphism was more frequent in patients with age-related macular degenerati
Clinical characteristics of familial and sporadic age-related macular degeneration: differences and similarities.
Saksens NT, Kersten E, Groenewoud JM, van Grinsven MJ, van de Ven JP, Sánchez CI, Schick T, Fauser S, den Hollander AI, Hoyng CB, Boon CJ. Saksens NT, et al. Invest Ophthalmol Vis Sci. 2014 Oct 9;55(11):7085-92. doi: 10.1167/iovs.14-14659. Invest Ophthalmol Vis Sci. 2014. PMID: 25301878
PURPOSE: We describe the differences and similarities in clinical characteristics and phenotype of familial and sporadic patients with age-related macular degeneration (AMD). METHODS: We evaluated data of 1828 AMD patients and 1715 contro …
PURPOSE: We describe the differences and similarities in clinical characteristics and phenotype of familial and sporadic patients wit …
CRB1 related retinal degeneration with novel mutation.
Ghiam BK, Wood EH, Thanos A, Randhawa S. Ghiam BK, et al. Am J Ophthalmol Case Rep. 2020 Apr 9;18:100699. doi: 10.1016/j.ajoc.2020.100699. eCollection 2020 Jun. Am J Ophthalmol Case Rep. 2020. PMID: 32322752 Free PMC article.
PURPOSE: To describe novel and previously unreported genetic mutations in the CRB1 gene in a patient with retinal dystrophy. ...This case is phenotypically unique in that CME was refractory to therapy, while CME in CRB1 related maculopathy typically respon
PURPOSE: To describe novel and previously unreported genetic mutations in the CRB1 gene in a patient with retinal dystrophy. . …
Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration.
Ferrara D, Seddon JM. Ferrara D, et al. JAMA Ophthalmol. 2015 Jul;133(7):785-91. doi: 10.1001/jamaophthalmol.2015.0814. JAMA Ophthalmol. 2015. PMID: 25880396 Free PMC article.
IMPORTANCE: The complement factor H R1210C rare variant confers the strongest genetic risk for age-related macular degeneration and earlier age at onset; however, its associated phenotype has not been well characterized. ...For this retro …
IMPORTANCE: The complement factor H R1210C rare variant confers the strongest genetic risk for age-related macular
An Induced Pluripotent Stem Cell Patient Specific Model of Complement Factor H (Y402H) Polymorphism Displays Characteristic Features of Age-Related Macular Degeneration and Indicates a Beneficial Role for UV Light Exposure.
Hallam D, Collin J, Bojic S, Chichagova V, Buskin A, Xu Y, Lafage L, Otten EG, Anyfantis G, Mellough C, Przyborski S, Alharthi S, Korolchuk V, Lotery A, Saretzki G, McKibbin M, Armstrong L, Steel D, Kavanagh D, Lako M. Hallam D, et al. Stem Cells. 2017 Nov;35(11):2305-2320. doi: 10.1002/stem.2708. Epub 2017 Oct 9. Stem Cells. 2017. PMID: 28913923 Free PMC article.
Age-related macular degeneration (AMD) is the most common cause of blindness, accounting for 8.7% of all blindness globally. ...Taken together, our data indicate that the patient specific iPSC model provides a robust platform for understanding t
Age-related macular degeneration (AMD) is the most common cause of blindness, accounting for 8.7% of all blindne
Photodynamic therapy in VEGF inhibition non-responders-Pharmacogenetic study in age-related macular degeneration assessed with swept-source optical coherence tomography.
Teper SJ, Nowinska A, Pilat J, Wylegala E. Teper SJ, et al. Photodiagnosis Photodyn Ther. 2016 Mar;13:108-113. doi: 10.1016/j.pdpdt.2016.01.006. Epub 2016 Jan 15. Photodiagnosis Photodyn Ther. 2016. PMID: 26780119 Clinical Trial.
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 …
BACKGROUND: Treatment of neovascular age-related macular degeneration (nAMD) remains a major challenge in ophtha …
Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study.
Lotery AJ, Gibson J, Cree AJ, Downes SM, Harding SP, Rogers CA, Reeves BC, Ennis S, Chakravarthy U; Alternative Treatments to Inhibit VEGF in Patients with Age-Related Choroidal Neovascularisation (IVAN) Study Group. Lotery AJ, et al. Ophthalmology. 2013 Dec;120(12):2637-2643. doi: 10.1016/j.ophtha.2013.07.046. Epub 2013 Sep 23. Ophthalmology. 2013. PMID: 24070809 Clinical Trial.
PURPOSE: To determine if prespecified genetic polymorphisms influence responsiveness to vascular endothelial growth factor (VEGF) inhibition in neovascular age-related macular degeneration (nAMD). ...PARTICIPANTS: Five hundred nine participants …
PURPOSE: To determine if prespecified genetic polymorphisms influence responsiveness to vascular endothelial growth factor (VEGF) inh …
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