Molecular genetics of age-related macular degeneration

Edwin M Stone; Val C Sheffield; Gregory S Hageman

doi:10.1093/hmg/10.20.2285

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Molecular genetics of age-related macular degeneration

Journal article

Open access

Peer reviewed

Molecular genetics of age-related macular degeneration

Edwin M Stone, Val C Sheffield and Gregory S Hageman

Human molecular genetics, Vol.10(20), pp.2285-2292

10/01/2001

DOI: 10.1093/hmg/10.20.2285

PMID: 11673412

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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.

Mutation

Molecular Biology

Genotype

Macular Degeneration - genetics

Humans

Details

Title: Subtitle: Molecular genetics of age-related macular degeneration
Creators: Edwin M Stone - Department of Ophthalmology, The University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA. edwin-stone@uiowa.edu
Val C Sheffield
Gregory S Hageman
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.10(20), pp.2285-2292
DOI: 10.1093/hmg/10.20.2285
PMID: 11673412
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: EY10539 / NEI NIH HHS
Language: English
Date published: 10/01/2001
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979919602771

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