Show Summary Details
Page of

Genetics and Genomics in Clinical Ophthalmology, III: Age-Related Macular Degeneration 

Genetics and Genomics in Clinical Ophthalmology, III: Age-Related Macular Degeneration
Genetics and Genomics in Clinical Ophthalmology, III: Age-Related Macular Degeneration

Mark E. Kleinman

and Jayakrishna Ambati

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2020. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 30 October 2020

Age-related macular degeneration (AMD) is the most common cause of irreversible blindness in the developed world. AMD is characterized as a progressive retinal degeneration with hallmark features such as the accumulation of sub and intra-retinal lipoproteinaceous deposits called drusen, abnormal pigment clumping, subretinal fluid or hemorrhage and atrophy of the retinal pigment epithelium (RPE). Severe vision loss from AMD results from choroidal neovascularization (CNV), the invasion of the retina by abnormal choroidal blood vessels, or from geographic atrophy (GA), the apoptotic loss of RPE, photoreceptors and choriocapillaris. The pathology most often occurs in the central visual field leading to distortion (metamorphopsias), loss of contrast or black spots (scotomas) experienced by the patient. The unfortunate predilection for the macula, an area which is required for high-quality binocular visual acuity, has intrigued scientists and clinicians. Theories related to the exposure of focus light rays, high metabolic demand, oxidative stress overload, and spatial heterogeneity of cellular architecture have all been purported, but in the last decade the field of genetics has offered a truly unique perspective of this disease. Our fundamental knowledge of AMD pathogenesis has matured considerably in the past decade, and this disease model now serves as a prime example of how to improve our translational approaches to human genetics to develop effective therapies. Dozens of genes have now been associated with this condition with many relevant pathways being targeted in clinical trials. Therein, we will focus this chapter on the polygenic nature of AMD and the charted development of potential therapeutic approaches that have been directly related to the robust genetic associations discovered thus far.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.