What Does Genetics Tell Us About Age-Related Macular Degeneration?

Annual Review of Vision Science
Felix GrassmannBernhard H F Weber

Abstract

Age-related macular degeneration (AMD) is a chronic degenerative disease of the central retina and a major cause of vision impairment and blindness with millions of people affected in the elderly population. In recent years, considerable efforts have been made to understand disease pathology with the long-term goal of designing novel and effective treatment options for this devastating disease. Although striking advances in treating the neovascular stage of late AMD have occurred, no therapy is available for almost half of all AMD patients, specifically those who are affected by the atrophic form of the disease. This review highlights current knowledge on the genetic factors associated with early- and late-stage forms of the disease. It also summarizes the findings regarding the extent to which these factors may play a role in the transition from one disease stage to another, and it emphasizes the need to explore further the underlying mechanisms for both development and progression of this disease as a starting point for designing innovative therapies for it.

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Citations

Apr 5, 2020·Human Molecular Genetics·Rinki RatnapriyaAnneke I den Hollander
Sep 24, 2016·Molecular Diagnosis & Therapy·Patricia BerberBernhard H F Weber
Aug 31, 2018·European Journal of Human Genetics : EJHG·Felix GrassmannUNKNOWN International Age-related Macular Degeneration Genomics Consortium (IAMDGC)
Mar 30, 2017·Genome Medicine·Felix GrassmannBernhard H F Weber
Apr 17, 2020·International Journal of Molecular Sciences·Christina KielBernhard H F Weber
Oct 31, 2020·Frontiers in Neuroscience·Natalie WagnerStephanie C Joachim
Jul 30, 2020·Progress in Retinal and Eye Research·Sven SchnichelsAlexa Klettner
May 8, 2021·Nature Reviews. Disease Primers·Monika FleckensteinEmily Y Chew

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Methods Mentioned

BETA
genotyping
electron microscopy
imaging techniques
dissection
RNASeq
immunoprecipitation
urine collection

Clinical Trials Mentioned

NCT01363570
NCT02051998
NCT01115387

Software Mentioned

Bioconductor package
FANTOM
WebGestalt
FunciSNP
ENCODE Encyclopedia
R

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