Molecular genetics of age-related macular degeneration

Stone, E. M.

doi:10.1093/hmg/10.20.2285

Cited by 79Retinal Diseases and TreatmentsRetinal Development and DisordersRetinal Imaging and Analysis

Molecular genetics of age-related macular degeneration

Stone, E. M.·2001·Human Molecular Genetics

DOI 10.1093/hmg/10.20.2285

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Abstract

The numerous conditions that clinicians group under the term 'age-related macular degeneration' (AMD) are collectively the most common cause of severe visual loss in the developed world. Moreover, the number of people affected by these diseases is expected to nearly double in the next 25 years. A growing body of data suggests that a large fraction of AMD is caused by genetic factors. As a result, numerous investigators have sought genes that contribute to this disorder. At least six genes have now been identified that cause heritable macular disease, but none of these seem to cause even a moderate fraction of AMD. Affected pedigree member studies suggest that some regions of the genome do harbor AMD predisposing genes, but none have yet been identified by this approach. Studies of human donor tissue have yielded important new insights into pathways associated with AMD. These studies, when combined with the power of genetic approaches, are likely to ultimately reveal a set of genes responsible for a sizeable fraction of AMD.

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Other candidate gene studies focused on genes implicated in macular dystrophies with Mendelian inheritance and phenotypic similarities to AMD.
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From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [146]

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Authors: Stone, E. M.
Affiliations: University of Iowa (US)
Corresponding author: Stone, E. M.
ORCID: Stone, E. M.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2001-10-01
Volume: 10
Issue: 20
Pages: 2285-2292
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/10.20.2285
OpenAlex: W2108050710
Cited by: 79
References: 85
Citations by year: 2024: 1 · 2022: 1 · 2021: 1 · 2020: 2 · 2016: 1 · 2014: 1 · 2013: 1 · 2012: 2
FWCI: 3.17
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: Foundation Fighting Blindness
Research to Prevent Blindness
Grousbeck Family Foundation
National Institutes of Health
National Eye Institute (R01EY010539, EY10539)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
Keywords: age-related macular degeneration, genetic susceptibility, vision loss
MeSH terms: Genotype, Humans, Macular Degeneration, Molecular Biology, Mutation

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Molecular genetics of age-related macular degeneration

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