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Cited by 67Retinal Diseases and TreatmentsRetinal Development and DisordersGenetic Associations and Epidemiology

Genetics and genetic testing for age-related macular degeneration

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Warwick, A., Lotery, A.·2018·Eye
DOI 10.1038/eye.2017.245PMC PMC5944647
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Abstract

Considerable advances have been made in our understanding of age-related macular degeneration (AMD) genetics over the past decade. The genetic associations discovered to date are estimated to account for approximately half of AMD heritability, and functional studies of these variants have revealed new insights into disease pathogenesis, leading to the development of potential novel therapies. There is furthermore growing interest in genetic testing for predicting an individual's risk of AMD and offering personalised preventive or therapeutic treatments. We review the progress made so far in AMD genetics and discuss the possible applications for genetic testing.

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  • The ability to better risk-stratify patients can improve outcomes by better allocating scarce resources to patients most in need or by selecting the most effective treatment from alternatives.

    “The ability to better riskstratify patients can improve outcomes by better allocating scarce resources to the patients most in need or by selecting the most effective treatment from alternatives [1,26].”

    From Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians. (2024) · cites this paper as [26]

    The Pharmacogenetics and AMD section discusses whether genetic variants predict response to anti-VEGF treatment, which relates to selecting treatment based on patient characteristics. But it says the findings need validation and does not establish improved outcomes from treatment selection or discuss allocating scarce resources. No page number is available in our copy. (LLM, conf=0.76)

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Authors
Warwick, A., & Lotery, A.
Affiliations
  • Moorfields Eye Hospital (GB)
  • University of Southampton (GB)
Corresponding author
Lotery, A.
ORCID
Venue
Eye
Publisher
Springer Science and Business Media LLC
Published
2017-11-10
Volume
32
Issue
5
Pages
849-857
ISSN
  • 0078-5334 (ISSN-L)
  • 0950-222X
  • 1476-5454
DOI
10.1038/eye.2017.245
PMC
PMC5944647
OpenAlex
W2768026721
Cited by
67
References
103
Citations by year
2026: 3 · 2025: 8 · 2024: 5 · 2023: 12 · 2022: 9 · 2021: 6 · 2020: 11 · 2019: 9 · 2018: 4
FWCI
1.21
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • Eye (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • ePrints Soton (University of Southampton) (submittedVersion)
Funders
National Institute for Health and Care Research (NF-SI-0515-10020)
Topics
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
age-related macular degeneration, genetic association, heritability, genetic variants, pathogenesis, genetic testing, risk prediction, personalized medicine, new drugs
MeSH terms
Genetic Testing, Humans, Macular Degeneration, Risk Factors, Genetic Predisposition to Disease

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