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

Genetics and Genomics in Clinical Ophthalmology, III: Age-Related Macular Degeneration
Chapter:
Genetics and Genomics in Clinical Ophthalmology, III: Age-Related Macular Degeneration
Author(s):

Mark E. Kleinman

and Jayakrishna Ambati

DOI:
10.1093/med/9780199896028.003.0042
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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.

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