How Do Patients Respond to Genetic Testing for Age-related Macular Degeneration?
Optom Vis Sci. 2018.
PMID: 29424826
Free PMC article.
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How Do Patients Respond to Genetic Testing for Age-related Macular Degeneration?
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 …
Patient Use of Dietary Supplements, Home Monitoring, or Genetic Testing for Nonneovascular Age-Related Macular Degeneration.
J Vitreoretin Dis. 2021 Apr 26;5(5):389-395. doi: 10.1177/2474126421989228. eCollection 2021 Sep-Oct.
J Vitreoretin Dis. 2021.
PMID: 37008702
Free PMC article.
PURPOSE: This work evaluated the use and type of dietary supplements and home monitoring for nonneovascular age-related macular degeneration (AMD), as well as the prevalence of genetic testing among patients with AMD. ...Genetic …
PURPOSE: This work evaluated the use and type of dietary supplements and home monitoring for nonneovascular age-related mac …
Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration.
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 …
Clinical characteristics of familial and sporadic age-related macular degeneration: differences and similarities.
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 …
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.
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 …
Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration.
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 …
CRB1 related retinal degeneration with novel mutation.
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. . …
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.
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 …
Familial discordance in Stargardt disease.
Mol Vis. 2012;18:227-33. Epub 2012 Jan 28.
Mol Vis. 2012.
PMID: 22312191
Free PMC article.
Patients were stratified based on the results of electroretinogram testing. ...Patient 1 had an age of onset 28 years younger than patient 2, whose delayed onset can be explained by relative foveal sparing, while patient 4 had an age …
Patients were stratified based on the results of electroretinogram testing. ...Patient 1 had an age of onset 28 …
Photodynamic therapy in VEGF inhibition non-responders-Pharmacogenetic study in age-related macular degeneration assessed with swept-source optical coherence tomography.
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 …
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