Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians
Age-related macular degeneration (AMD) is a multifactorial genetic disease, with at least 52 identifiable associated gene variants at 34 loci, including variants in complement factor H (CFH) and age-related maculopathy susceptibility 2/high-temperature requirement A serine peptidase-1 (ARMS2/HTRA1)....
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| Format: | Article |
| Language: | English |
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IMR Press
2024-02-01
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| Series: | Frontiers in Bioscience-Scholar |
| Subjects: | |
| Online Access: | https://www.imrpress.com/journal/FBS/16/1/10.31083/j.fbs1601003 |
| _version_ | 1827304561057988608 |
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| author | Julia Nguyen Milam A. Brantley, Jr. Stephen G Schwartz |
| author_facet | Julia Nguyen Milam A. Brantley, Jr. Stephen G Schwartz |
| author_sort | Julia Nguyen |
| collection | DOAJ |
| description | Age-related macular degeneration (AMD) is a multifactorial genetic disease, with at least 52 identifiable associated gene variants at 34 loci, including variants in complement factor H (CFH) and age-related maculopathy susceptibility 2/high-temperature requirement A serine peptidase-1 (ARMS2/HTRA1). Genetic factors account for up to 70% of disease variability. However, population-based genetic risk scores are generally more helpful for clinical trial design and stratification of risk groups than for individual patient counseling. There is some evidence of pharmacogenetic influences on various treatment modalities used in AMD patients, including Age-Related Eye Disease Study (AREDS) supplements, photodynamic therapy (PDT), and anti-vascular endothelial growth factor (anti-VEGF) agents. However, there is currently no convincing evidence that genetic information plays a role in routine clinical care. |
| first_indexed | 2024-04-24T17:39:03Z |
| format | Article |
| id | doaj.art-ef40bdf84d6d4125bb9354be1d691597 |
| institution | Directory Open Access Journal |
| issn | 1945-0516 |
| language | English |
| last_indexed | 2024-04-24T17:39:03Z |
| publishDate | 2024-02-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Frontiers in Bioscience-Scholar |
| spelling | doaj.art-ef40bdf84d6d4125bb9354be1d6915972024-03-28T02:51:23ZengIMR PressFrontiers in Bioscience-Scholar1945-05162024-02-01161310.31083/j.fbs1601003S1945-0516(24)00100-XGenetics and Age-Related Macular Degeneration: A Practical Review for CliniciansJulia Nguyen0Milam A. Brantley, Jr.1Stephen G Schwartz2Department of Ophthalmology and Visual Sciences, Rutgers New Jersey Medical School, Newark, NJ 07103, USADepartment of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, TN 37232, USADepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USAAge-related macular degeneration (AMD) is a multifactorial genetic disease, with at least 52 identifiable associated gene variants at 34 loci, including variants in complement factor H (CFH) and age-related maculopathy susceptibility 2/high-temperature requirement A serine peptidase-1 (ARMS2/HTRA1). Genetic factors account for up to 70% of disease variability. However, population-based genetic risk scores are generally more helpful for clinical trial design and stratification of risk groups than for individual patient counseling. There is some evidence of pharmacogenetic influences on various treatment modalities used in AMD patients, including Age-Related Eye Disease Study (AREDS) supplements, photodynamic therapy (PDT), and anti-vascular endothelial growth factor (anti-VEGF) agents. However, there is currently no convincing evidence that genetic information plays a role in routine clinical care.https://www.imrpress.com/journal/FBS/16/1/10.31083/j.fbs1601003age-related macular degenerationage-related eye disease studygeographic atrophyneovascular amdpharmacogenetics |
| spellingShingle | Julia Nguyen Milam A. Brantley, Jr. Stephen G Schwartz Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians Frontiers in Bioscience-Scholar age-related macular degeneration age-related eye disease study geographic atrophy neovascular amd pharmacogenetics |
| title | Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians |
| title_full | Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians |
| title_fullStr | Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians |
| title_full_unstemmed | Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians |
| title_short | Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians |
| title_sort | genetics and age related macular degeneration a practical review for clinicians |
| topic | age-related macular degeneration age-related eye disease study geographic atrophy neovascular amd pharmacogenetics |
| url | https://www.imrpress.com/journal/FBS/16/1/10.31083/j.fbs1601003 |
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