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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

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Age-related macular degeneration: genetic and clinical findings

1 / Maria Grigoriadou1 / Michael B. Petersen1

1Department of Genetics, Institute of Child Health, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece

Corresponding author: Haris Kokotas, Department of Genetics, Institute of Child Health, ‘Aghia Sophia’ Children’s Hospital, Athens 11527, Greece Phone: +30 213 2037 333, Fax: +30 210 7700 111

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 49, Issue 4, Pages 601–616, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2011.091, December 2010

Publication History

Published Online:


Age-related macular degeneration (AMD) is a sight threatening eye disease that affects millions of humans over the age of 65 years. It is considered to be the major cause of irreversible blindness in the elderly population in the developed world. The disease is prevalent in Europe and the United States, which has a large number of individuals of European descent. AMD is characterized by a progressive loss of central vision attributable to degenerative and neovascular changes that occur in the interface between the neural retina and the underlying choroid. This location contains the retinal photoreceptors, the retinal pigmented epithelium, a basement membrane complex known as Bruch’s membrane and a network of choroidal capillaries. AMD is increasingly recognized as a complex genetic disorder where one or more genes contribute to an individual’s susceptibility to development of the condition, while the prevailing view is that the disease stems from the interaction of multiple genetic and environmental factors. Although it has been proposed that a threshold event occurs during normal aging, the sequelae of biochemical, cellular, and molecular events leading to AMD are not fully understood. Here, we review the clinical aspects of AMD and summarize the genes which have been reported to have a positive association with the disease.

Keywords: age-related macular degeneration; blindness; clinical signs; genes

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