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Special Communication |

Genetic Testing for Age-Related Macular Degeneration Not Indicated Now

Edwin M. Stone, MD, PhD1
[+] Author Affiliations
1The University of Iowa Carver College of Medicine, Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, Howard Hughes Medical Institute, Iowa City
JAMA Ophthalmol. 2015;133(5):598-600. doi:10.1001/jamaophthalmol.2015.0369.
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Age-related macular degeneration is a very common condition that is caused by a complex interplay of genetic and environmental factors. It is likely that, in the future, genetic testing will allow physicians to achieve better clinical outcomes by administering specific treatments to patients based on their genotypes. However, improved outcomes for genotyped patients have not yet been demonstrated in a prospective clinical trial, and as a result, the costs and risks of routine genetic testing currently outweigh the benefits for patients with age-related macular degeneration.

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Figure 1.
Fundus Photographs of the Right (A) and Left (B) Eyes of a 69-Year-Old Patient With Age-Related Macular Degeneration and Homozygous Low-Risk Genotypes at Both the CFH and ARMS2 Loci

The patient’s left eye has a visual acuity of 20/300 and a large subretinal hemorrhage and subretinal pigment epithelial hemorrhage associated with a choroidal neovascular membrane.

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Figure 2.
Histological Section of the Macula of an 85-Year-Old Human Donor Who Was Homozygous for the Highest-Risk CFH Allele

The outer retina and retinal pigment epithelium are completely normal (hematoxylin-eosin, original magnification ×40).

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