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Progress in defining the molecular biology of age related macular degeneration

Progress in defining the molecular biology of age related macular degeneration
Progress in defining the molecular biology of age related macular degeneration
Age related macular degeneration (AMD) is an extremely prevalent complex genetic disorder. Its incidence rises exponentially in the elderly to a frequency of 1 in 2 in the general population by age 85. It affects approximately 25 million people and is the commonest cause of irreversible visual loss in the Western world. It is therefore a major public health problem. However, until recently its aetiology was unknown. Our understanding of both the molecular biology of AMD and the relevant clinical treatments has progressed dramatically in the last 2 years. Two genes of large effect have beeen identified which together contribute to over 70% of the population attributable risk of AMD. Treatments which inhibit expression of vascular endothelial growth factor have been developed which can rescue vision in the "wet" form of the disease. The association of complement factor H with AMD highlights the importance of the alternative complement pathway in the developemnt of AMD whilst the pathophysiology of the serine protease HTRA1 is now under intensive study. This review will give an insight into these developments and will summarise our current knowledge of the molecular biology of AMD
population, gene, elderly, health, expression, amd, apolipoprotein-e gene, short consensus repeat, growth, body-mass index, association, stargardt-disease gene, disorder, endothelial growth-factor, macular degeneration, risk, general-population, beaver dam eye, complement factor-h, dense deposit disease, glomerulonephritis type-ii, htra1 promoter polymorphism, treatment, disease
0340-6717
219-236
Lotery, A.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Trump, D.
3bf4960e-1b72-4a77-929e-7179f9d991b5
Lotery, A.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Trump, D.
3bf4960e-1b72-4a77-929e-7179f9d991b5

Lotery, A. and Trump, D. (2007) Progress in defining the molecular biology of age related macular degeneration. Human Genetics, 122 (3-4), 219-236.

Record type: Article

Abstract

Age related macular degeneration (AMD) is an extremely prevalent complex genetic disorder. Its incidence rises exponentially in the elderly to a frequency of 1 in 2 in the general population by age 85. It affects approximately 25 million people and is the commonest cause of irreversible visual loss in the Western world. It is therefore a major public health problem. However, until recently its aetiology was unknown. Our understanding of both the molecular biology of AMD and the relevant clinical treatments has progressed dramatically in the last 2 years. Two genes of large effect have beeen identified which together contribute to over 70% of the population attributable risk of AMD. Treatments which inhibit expression of vascular endothelial growth factor have been developed which can rescue vision in the "wet" form of the disease. The association of complement factor H with AMD highlights the importance of the alternative complement pathway in the developemnt of AMD whilst the pathophysiology of the serine protease HTRA1 is now under intensive study. This review will give an insight into these developments and will summarise our current knowledge of the molecular biology of AMD

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More information

Published date: 2007
Keywords: population, gene, elderly, health, expression, amd, apolipoprotein-e gene, short consensus repeat, growth, body-mass index, association, stargardt-disease gene, disorder, endothelial growth-factor, macular degeneration, risk, general-population, beaver dam eye, complement factor-h, dense deposit disease, glomerulonephritis type-ii, htra1 promoter polymorphism, treatment, disease

Identifiers

Local EPrints ID: 62483
URI: http://eprints.soton.ac.uk/id/eprint/62483
ISSN: 0340-6717
PURE UUID: 476adb40-46c0-42a6-abe5-bab5bbacd369
ORCID for A. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 11 Sep 2008
Last modified: 23 Jul 2022 01:51

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Contributors

Author: A. Lotery ORCID iD
Author: D. Trump

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