Genetic Testing for Macular Degeneration
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Background: Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world and is characterized by progressive degeneration of the retinal pigment epithelium and secondary photoreceptor loss, resulting in visual loss. Etiological research suggests that age related macular degeneration is a complex disease, caused by the interactions of several genetic and enviro...
متن کاملSpecial Correspondence The Use of Genetic Testing in the Management of Patients With Age-Related Macular Degeneration: American Society of Retina Specialists Genetics Task Force Special Report
Our understanding of the role that genetics play in age-related macular degeneration (AMD) is rapidly evolving. DNA polymorphisms in various genes continue to be identified that associate with the disease. Clinicians are frequently asked by their patients about the role of genetic testing and the utility of that testing in the management of the disease. While the present recommendations are con...
متن کاملSpectral thresholds in macular degeneration.
Spectral sensitivities were measured in 18 normal eyes, 9 eyes in patients with senile macular degeneration, 4 patients with Stargardt's juvenile macular degeneration (JMD), and 2 patients without conclusive signs--that is, genetic or morphological abnormalities--to indicate the cause of loss of central vision. Spectral sensitivity, testing for which included measurements on white, yellow, purp...
متن کاملGenetics and age-related macular degeneration: a practical review for the clinician
Age-related macular degeneration is a complex disease, with both genetic and environmental risk factors interacting in unknown ways. Currently, 52 gene variants within 34 loci have been significantly associated with age-related macular degeneration. Two well-studied major genes are complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2). There exist several commercially a...
متن کاملGenetic testing for age-related macular degeneration.
As the medical community has accepted that age-related macular degeneration (AMD) is a disease influenced by genetics, so too has it uncovered patterns in patients’ genetic profiles that suggest some individuals are at increased risk for initiation or progression of the disease. However, genetics is not everything, and retina specialists need to remember that AMD is a complex disorder that is a...
متن کاملAge related macular degeneration in monozygotic twins and their spouses in Iceland.
PURPOSE To examine the importance of genetic factors in age-related macular degeneration by using a twin study to compare the concordance of age-related macular degeneration in monozygotic twin pairs and their spouses. METHODS This was a prospective study that included 50 twin pairs and 47 spouses. Zygosity was determined by genetic laboratory testing. Macular findings were graded based on th...
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